E197K (p.Glu197Lys) variant of SRD5A2 (P31213)
E197K (p.Glu197Lys) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differences in sex devel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E197K (p.Glu197Lys) variant details
- p.Glu197Lys
- rs534671822
- ClinGen CA1599884
- ClinVar RCV001726695
- 1000Genomes rs534671822
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differences in sex devel
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; Differen)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available