V225M (p.Val225Met) variant of HSD17B3 (P37058)
V225M (p.Val225Met) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V225M (p.Val225Met) variant details
- p.Val225Met
- rs768355659
- ClinGen CA196613902
- ClinVar RCV003459913
- ClinVar RCV003553946
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.63
- CADD 28.80
- PolyPhen-2 0.82
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available