Is ASB1 p.Arg183Pro (c.548G>C) pathogenic?

ASB1 p.Arg183Pro (c.548G>C) is classified Likely benign in ASB1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-25). AlphaMissense: likely benign (0.06); Very rare (popmax 0.0011%, sas).

How common is ASB1 p.Arg183Pro (c.548G>C) in the general population?

ASB1 p.Arg183Pro (c.548G>C) is very rare (popmax 0.0011%, sas) (gnomAD).

What do computational predictors say about ASB1 p.Arg183Pro (c.548G>C)?

AlphaMissense predicts likely benign (score 0.06) — an in-silico prediction, not a clinical call.

ASB1 p.Arg183Pro

c.548G>C · rs370724967 · VCV3130070

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.06 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.0011%, sas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.06	likely benign
REVEL	0.093	moderately benign-leaning
SaProt	LLR -6.14	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.9	GERP 0.75, phastCons 0.97
Regional constraint	o/e 0.88	unconstrained · MANE · 19 kb · p 0.01 · regional, not allelic
Overall
CADD	14.85	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0011% South Asian · 1/91,072 alleles

Overall 6.84e-05% 1/1,461,108 alleles · very rare

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: ASB1
Protein: p.Arg183Pro
Coding: c.548G>C
MANE Select: NM_001040445
dbSNP: rs370724967
Type: single nucleotide variant
Location: chr2:238444395 (GRCh38)
Gene constraint: LOEUF 0.951 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.61

Full ASB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB1 p.Ala11Gly Uncertain significance ★ ⚠ same type
ASB1 p.Ala216Val Uncertain significance ★ ⚠ same type
ASB1 p.Ala85Val Uncertain significance ★ ⚠ same type
ASB1 p.Arg141Trp Uncertain significance ★ ⚠ same type
ASB1 p.Arg144Cys Uncertain significance ★ ⚠ same type
ASB1 p.Arg144His Uncertain significance ★ ⚠ same type
ASB1 p.Arg156Gln Uncertain significance ★ ⚠ same type
ASB1 p.Arg165Ser 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/asb1-p-arg183pro (accessed [today's date]).

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