COASY p.Arg31=
c.93G>A · rs547215924 · VCV763215
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0761%, sas)
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 0.11 | GERP -5.2, phastCons 0.63 |
| Overall | ||
| CADD | 8.485 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0761%
South Asian · 67/87,988 alleles
Filtering AF
0.0615%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0561%
Overall
0.00432%
68/1,573,398 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0761% | 1,313 |
| Remaining individualsnot grpmax-eligible | 0.00164% | 60,810 |
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
- COASY
- Protein
- p.Arg31=
- Coding
- c.93G>A
- MANE Select
- NM_025233
- dbSNP
- rs547215924
- Type
- single nucleotide variant
- Location
- chr17:42562715 (GRCh38)
- Gene constraint
- LOEUF 0.791 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.51
Similar variants
- COASY c.1486-3C>G Pathogenic/Likely pathogenic ★★ same type
- COASY p.Ala214Val Likely pathogenic ★★ ⚠ same type
- COASY p.Arg377Ter Pathogenic/Likely pathogenic ★★ same type
- COASY p.Arg499Cys Pathogenic ★★ same type
- COASY p.Gln523Ter Pathogenic ★★ same type
- COASY p.Ala206Ser Uncertain significance ★★ ⚠ same type
- COASY p.Ala311Val Uncertain significance ★★ ⚠ same type
- COASY p.Ala395Thr 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/coasy-p-arg31 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown