L20V (p.Leu20Val) variant of SRD5A2 (P31213)
L20V (p.Leu20Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- gnomAD rs1215794037
- Missense
- Variant Prioritization Score for Impact Estimate 0.0656
- CADD 0.42
- PolyPhen-2 0.22
- SIFT 0.39
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available