P42A (p.Pro42Ala) variant of SRD5A2 (P31213)
P42A (p.Pro42Ala) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- ExAC rs762742772
- gnomAD rs762742772
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 6.38
- PolyPhen-2 0.29
- SIFT 0.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available