R105K (p.Arg105Lys) variant of SRD5A2 (P31213)
R105K (p.Arg105Lys) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R105K (p.Arg105Lys) variant details
- p.Arg105Lys
- 1000Genomes rs148028901
- TOPMed rs148028901
- gnomAD rs148028901
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 12.30
- PolyPhen-2 0.23
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available