P48R (p.Pro48Arg) variant of SRD5A2 (P31213)
P48R (p.Pro48Arg) in SRD5A2 (P31213) is a missense change. The available record places it in the context of not provided. 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.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- rs61748122
- ClinGen CA224882
- ClinVar RCV000083639
- UniProt VAR 077548
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)