L17V (p.Leu17Val) variant of SRD5A2 (P31213)
L17V (p.Leu17Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD rs1405785453
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 16.70
- PolyPhen-2 0.73
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available