P59L (p.Pro59Leu) variant of SRD5A2 (P31213)
P59L (p.Pro59Leu) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- gnomAD rs1009792956
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available