L20P (p.Leu20Pro) variant of SRD5A2 (P31213)
L20P (p.Leu20Pro) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs761824859
- ClinGen CA1600035
- ClinVar RCV000583658
- ClinVar RCV001591351
- Pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 23.00
- PolyPhen-2 0.93
- SIFT 0.07
- ClinVar: Pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available