A62T (p.Ala62Thr) variant of SRD5A2 (P31213)
A62T (p.Ala62Thr) in SRD5A2 (P31213) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- NCI-TCGA Cosmic COSV5187
- TOPMed rs1340733222
- gnomAD rs1340733222
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 15.40
- PolyPhen-2 0.21
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)