ARSD p.Tyr322=
c.966T>C · rs377542415 · VCV769485
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000223%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>C here scores Δ0.39 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.4 | GERP -2.7 |
| Overall | ||
| CADD | 0.149 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000223%
European (non-Finnish) · 2/895,303 alleles
Filtering AF
3.7e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.4e-05%
Overall
0.000182%
2/1,097,811 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
- ARSD
- Protein
- p.Tyr322=
- Coding
- c.966T>C
- MANE Select
- NM_001669
- dbSNP
- rs377542415
- Type
- single nucleotide variant
- Location
- chrX:2915590 (GRCh38)
- Structure
- AlphaFold pLDDT 92.71
Similar variants
- ARSD p.Cys577= Benign ★★ same type
- ARSD p.Gly323= Likely benign ★★ same type
- ARSD p.Gly409Glu Benign ★★ same type
- ARSD p.Ser224Cys Benign ★★ same type
- ARSD p.Val500Ile Benign ★★ same type
- ARSD p.Ala109Thr Uncertain significance ★ ⚠ same type
- ARSD p.Ala14Thr Uncertain significance ★ ⚠ same type
- ARSD p.Ala194Val 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/arsd-p-tyr322 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown