L17S (p.Leu17Ser) variant of SRD5A2 (P31213)
L17S (p.Leu17Ser) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD rs1667067737
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available