Is AHSA1 p.Val232= (c.696G>A) pathogenic?

AHSA1 p.Val232= (c.696G>A) is classified Benign in AHSA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-11-18). Common (popmax 14.3%, afr) — too common for a highly-penetrant pathogenic allele.

AHSA1 p.Val232=

Q: How common is AHSA1 p.Val232= (c.696G>A) in the general population?

AHSA1 p.Val232= (c.696G>A) is common (popmax 14.3%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.696G>A · VCV4683919

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 14.3%, afr) — too common for a highly-penetrant pathogenic allele

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.042	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -4	GERP -3.8
Overall
CADD	0.519	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 14.3% African / African-American · 8,913/62,210 alleles

Filtering AF 14.1% ClinGen BA1/BS1 input FAF95, joint · FAF99 14%

Overall 0.804% 10,211/1,269,828 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	14.3%	7
Remaining individualsnot grpmax-eligible	1.06%	94
Admixed American	0.952%	105
Middle Eastern	0.649%	154
European (non-Finnish)	0.0396%	2,527
South Asian	0.0264%	3,781

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: AHSA1
Protein: p.Val232=
Coding: c.696G>A
MANE Select: NM_012111
Type: single nucleotide variant
Location: chr14:77468088 (GRCh38)
Gene constraint: LOEUF 0.505 · pLI 0.98 (gnomAD)
Structure: AlphaFold pLDDT 81.10 · 5 PDB
Residue 232: an α-helix

Full AHSA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

AHSA1 p.Val232Ala Uncertain significance ★ ⚠ same residue
AHSA1 p.Val232Leu Uncertain significance ★ ⚠ same residue
AHSA1 c.561+5A>G Benign ★★ same type
AHSA1 p.Val133Ala Likely benign ★★ ⚠ same type
AHSA1 c.561+2T>C Uncertain significance ★ same type
AHSA1 p.Ala124Val Uncertain significance ★ ⚠ same type
AHSA1 p.Ala147Thr Uncertain significance ★ ⚠ same type
AHSA1 p.Ala17Thr Uncertain significance ★ ⚠ same type

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/ahsa1-p-val232 (accessed [today's date]).

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