V3L (p.Val3Leu) variant of SRD5A2 (P31213)
V3L (p.Val3Leu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- ExAC rs763681675
- TOPMed rs763681675
- gnomAD rs763681675
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 0.78
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available