ARSG p.Pro115=
c.345G>A · VCV3621464
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00891%, eas)
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 -7.2 | GERP -3.2 |
| Overall | ||
| CADD | 1.118 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00891%
East Asian · 4/44,880 alleles
Filtering AF
0.00298%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0018%
Overall
0.000867%
14/1,613,992 alleles · very rare
exomes 13/1,461,812 · genomes 1/152,180 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00891% | 11,220 |
| Admixed American | 0.00167% | 59,998 |
| African / African-American | 0.00133% | 74,918 |
| South Asian | 0.0011% | 91,078 |
| European (non-Finnish) | 0.000593% | 168,573 |
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
- ARSG
- Protein
- p.Pro115=
- Coding
- c.345G>A
- MANE Select
- NM_001267727
- Type
- single nucleotide variant
- Location
- chr17:68343730 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.90
Similar variants
- ARSG p.Pro115Leu Uncertain significance ★★ same residue
- ARSG c.1091+1G>A Likely pathogenic ★★ same type
- ARSG c.982+2T>G Likely pathogenic ★★ same type
- ARSG p.Ala180Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala262Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala313Val Uncertain significance ★★ ⚠ same type
- ARSG p.Ala374Pro Uncertain significance ★★ ⚠ same type
- ARSG p.Ala437Val 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/arsg-p-pro115 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown