R50G (p.Arg50Gly) variant of SRD5A2 (P31213)
R50G (p.Arg50Gly) 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 0.32 / 1. The record also includes population frequency data and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- rs369117426
- NCI-TCGA Cosmic COSV5187
- ESP rs369117426
- ExAC rs369117426
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available