P72L (p.Pro72Leu) variant of SRD5A2 (P31213)
P72L (p.Pro72Leu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- TOPMed rs1393252721
- gnomAD rs1393252721
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 22.00
- PolyPhen-2 0.25
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)