L89P (p.Leu89Pro) variant of SRD5A2 (P31213)
L89P (p.Leu89Pro) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- gnomAD rs1321956713
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 14.90
- PolyPhen-2 0.10
- SIFT 0.14
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available