ARG2 p.Ala308=
c.924G>A · rs45584632 · VCV770239
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.661%, mid)
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 0.19 | GERP -4.7, phastCons 0.91 |
| Overall | ||
| CADD | 10.62 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.661%
Middle Eastern · 40/6,056 alleles
Filtering AF
0.499%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.442%
Overall
0.186%
2,996/1,614,122 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.661% | 151 |
| Ashkenazi Jewishnot grpmax-eligible | 0.537% | 186 |
| Admixed American | 0.335% | 299 |
| Remaining individualsnot grpmax-eligible | 0.275% | 363 |
| European (non-Finnish) | 0.189% | 529 |
| African / African-American | 0.183% | 548 |
| South Asian | 0.0494% | 2,024 |
| Finnishnot grpmax-eligible | 0.0109% | 9,149 |
| East Asian | 0.00669% | 14,958 |
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
- ARG2
- Protein
- p.Ala308=
- Coding
- c.924G>A
- MANE Select
- NM_001172
- dbSNP
- rs45584632
- Type
- single nucleotide variant
- Location
- chr14:67650779 (GRCh38)
- Gene constraint
- LOEUF 0.78 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.55 · 18 PDB
- Residue 308
- an α-helix
Similar variants
- ARG2 p.Arg4Trp Likely benign ★★ same type
- ARG2 p.Gly36= Benign ★★ same type
- ARG2 p.Ala106Pro Uncertain significance ★ ⚠ same type
- ARG2 p.Ala123Thr Uncertain significance ★ ⚠ same type
- ARG2 p.Ala191Ser Uncertain significance ★ ⚠ same type
- ARG2 p.Ala31Asp Uncertain significance ★ ⚠ same type
- ARG2 p.Arg105Ser Uncertain significance ★ ⚠ same type
- ARG2 p.Arg132Gln 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/arg2-p-ala308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown