P30L (p.Pro30Leu) variant of SRD5A2 (P31213)
P30L (p.Pro30Leu) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- UniProt VAR 077547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)