L68V (p.Leu68Val) variant of SRD5A2 (P31213)
L68V (p.Leu68Val) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- TOPMed rs1233627532
- gnomAD rs1233627532
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 22.90
- PolyPhen-2 0.75
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available