A228T (p.Ala228Thr) variant of SRD5A2 (P31213)
A228T (p.Ala228Thr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Differences in sex development; not provided; 3-Oxo-5 alpha-steroid delta 4-dehy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A228T (p.Ala228Thr) variant details
- p.Ala228Thr
- rs121434249
- ClinGen CA340077
- NCI-TCGA Cosmic COSV9925
- ClinVar RCV000003508
- Pathogenic/Likely pathogenic
- Differences in sex development; not provided; 3-Oxo-5 alpha-steroid delta 4-dehy
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Differences in sex development; not provided; 3-Oxo-5 alpha-ster)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency… (PMID 9843052)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)