G104R (p.Gly104Arg) variant of SRD5A2 (P31213)
G104R (p.Gly104Arg) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G104R (p.Gly104Arg) variant details
- p.Gly104Arg
- TOPMed rs1443380453
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available