E38K (p.Glu38Lys) variant of SRD5A2 (P31213)
E38K (p.Glu38Lys) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- TOPMed rs1347898502
- gnomAD rs1347898502
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 3.50
- PolyPhen-2 0.03
- SIFT 0.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available