ARSG p.Pro21=
c.63T>A · rs144073994 · VCV732227
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.21%, 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 -0.21 | GERP -3.5 |
| Overall | ||
| CADD | 4.638 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.21%
East Asian · 541/44,888 alleles
Filtering AF
1.12%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.09%
Overall
0.0393%
634/1,614,186 alleles · low-frequency
exomes 565/1,461,884 · genomes 69/152,302 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.21% | 83 |
| Remaining individualsnot grpmax-eligible | 0.0656% | 1,525 |
| South Asian | 0.045% | 2,222 |
| African / African-American | 0.00133% | 75,038 |
| European (non-Finnish) | 0.000847% | 118,003 |
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.Pro21=
- Coding
- c.63T>A
- MANE Select
- NM_001267727
- dbSNP
- rs144073994
- Type
- single nucleotide variant
- Location
- chr17:68307556 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.90
Similar variants
- 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
- ARSG p.Ala473Val 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-pro21 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown