SRD5A2 p.Arg70=
c.210G>A · rs61750388 · VCV97397
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 0.74 | GERP 0.28, phastCons 0.1 |
| Overall | ||
| CADD | 8.264 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.207% | 484 |
| Middle Eastern | 0.119% | 840 |
| Admixed American | 0.0252% | 3,976 |
| Remaining individualsnot grpmax-eligible | 0.0193% | 5,182 |
| European (non-Finnish) | 0.00518% | 19,314 |
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
- SRD5A2
- Protein
- p.Arg70=
- Coding
- c.210G>A
- MANE Select
- NM_000348
- dbSNP
- rs61750388
- Type
- single nucleotide variant
- Location
- chr2:31580691 (GRCh38)
- Gene constraint
- LOEUF 1.717 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.56 · 1 PDB
- Residue 70
- a UniProt-annotated variant site (found in individual with micropenis)
Disease context
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Childhood, Infancy, Neonatal
Similar variants
- SRD5A2 c.282-2A>G Pathogenic ★★ same condition
- SRD5A2 c.698+1G>T Pathogenic/Likely pathogenic ★★ same condition
- SRD5A2 p.Ala207Asp Pathogenic/Likely pathogenic ★★ same condition
- SRD5A2 p.Ala228Thr Pathogenic/Likely pathogenic ★★ same condition
- SRD5A2 p.Ala65Pro Pathogenic/Likely pathogenic ★★ same condition
- SRD5A2 p.Arg103Ter Pathogenic ★★ same condition
- SRD5A2 p.Arg145Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- SRD5A2 p.Arg227Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
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/srd5a2-p-arg70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown