R103Q (p.Arg103Gln) variant of SRD5A2 (P31213)
R103Q (p.Arg103Gln) 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 0.49 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs749199514
- NCI-TCGA Cosmic COSV5187
- NCI-TCGA Cosmic COSV9925
- ExAC rs749199514
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available