R94K (p.Arg94Lys) variant of SRD5A2 (P31213)
R94K (p.Arg94Lys) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R94K (p.Arg94Lys) variant details
- p.Arg94Lys
- gnomAD rs1244660622
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 29.70
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available