A62V (p.Ala62Val) variant of SRD5A2 (P31213)
A62V (p.Ala62Val) 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 0.08 / 1. The record also includes population frequency data.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- NCI-TCGA Cosmic COSV5187
- Ensembl rs1572374876
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0779
- CADD 1.21
- PolyPhen-2 0.00
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)