ASRGL1 p.Pro201=
c.603G>A · rs767383304 · VCV1156389
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.008%, afr)
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 -7.3 | GERP -3.1 |
| Overall | ||
| CADD | 1.648 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.008%
African / African-American · 6/75,020 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00228%
Overall
0.000496%
8/1,613,712 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.008% | 12,503 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,470 |
| European (non-Finnish) | 8.48e-05% | 1,179,656 |
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
- ASRGL1
- Protein
- p.Pro201=
- Coding
- c.603G>A
- MANE Select
- NM_001083926
- dbSNP
- rs767383304
- Type
- single nucleotide variant
- Location
- chr11:62389244 (GRCh38)
- Gene constraint
- LOEUF 1.121 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.20 · 15 PDB
Similar variants
- ASRGL1 p.Pro201Leu Uncertain significance ★★ ⚠ same residue
- ASRGL1 p.Ala12Ser Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Ala248Val Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Ala94Thr Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Arg106Gln Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Arg147Cys Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Arg196His Uncertain significance ★★ ⚠ same type
- ASRGL1 p.Arg19Gln 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/asrgl1-p-pro201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown