P106L (p.Pro106Leu) variant of SRD5A2 (P31213)
P106L (p.Pro106Leu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- ExAC rs747979984
- TOPMed rs747979984
- gnomAD rs747979984
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 22.40
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available