A52T (p.Ala52Thr) variant of SRD5A2 (P31213)
A52T (p.Ala52Thr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs564403641
- ClinGen CA1600019
- NCI-TCGA Cosmic COSV5187
- ClinVar RCV001576730
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available