P48L (p.Pro48Leu) variant of SRD5A2 (P31213)
P48L (p.Pro48Leu) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs61748122
- ClinGen CA1600024
- ClinVar RCV000695133
- ExAC rs61748122
- Uncertain significance
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available