Is AMPD3 p.Pro191= (c.573G>A) pathogenic?

AMPD3 p.Pro191= (c.573G>A) is classified Benign in AMPD3 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2018-01-12). Common (popmax 28%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Erythrocyte AMP deaminase deficiency.

What condition is associated with AMPD3 p.Pro191= (c.573G>A)?

AMPD3 p.Pro191= (c.573G>A) is associated with Erythrocyte AMP deaminase deficiency (ClinVar).

AMPD3 p.Pro191=

Q: How common is AMPD3 p.Pro191= (c.573G>A) in the general population?

AMPD3 p.Pro191= (c.573G>A) is common (popmax 28%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.573G>A · rs16907852 · VCV93471

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Common

common (popmax 28%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

Erythrocyte AMP deaminase deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.1	GERP -3.8
Overall
CADD	2.861	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 28% African / African-American · 21,001/74,968 alleles

Filtering AF 27.7% ClinGen BA1/BS1 input FAF95, joint · FAF99 27.6%

Overall 9.49% 152,969/1,612,012 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	28%	4
Ashkenazi Jewishnot grpmax-eligible	11.5%	9
Middle Eastern	10.4%	10
Remaining individualsnot grpmax-eligible	9.89%	10
European (non-Finnish)	8.89%	11
Finnishnot grpmax-eligible	8.65%	12
South Asian	7.63%	13
Admixed American	7.54%	13
Amishnot grpmax-eligible	3.73%	27
East Asian	0.0869%	1,150

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: AMPD3
Protein: p.Pro191=
Coding: c.573G>A
MANE Select: NM_001025389
dbSNP: rs16907852
Type: single nucleotide variant
Location: chr11:10482209 (GRCh38)
Gene constraint: LOEUF 0.817 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.74
Residue 191: the 'disordered' region

Full AMPD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Erythrocyte AMP deaminase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMPD3 p.Pro191Leu Likely benign ★ same residue
AMPD3 c.1135-5C>A Uncertain significance ★★ same condition
AMPD3 c.1135-6C>G Uncertain significance ★★ same condition
AMPD3 c.1267-3C>T Uncertain significance ★★ same condition
AMPD3 c.*287T>C Uncertain significance ★★ same condition
AMPD3 c.*75C>T Uncertain significance ★★ same condition
AMPD3 p.Ala141= Uncertain significance ★★ same condition
AMPD3 p.Arg426Trp Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ampd3-p-pro191 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown