M47V (p.Met47Val) variant of HSD17B3 (P37058)
M47V (p.Met47Val) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- rs191153391
- ClinGen CA5140543
- ClinVar RCV003037330
- ClinVar RCV004526221
- Pathogenic/Likely pathogenic
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.39
- MetaLR 0.71
- MetaSVM 0.31
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Pathogenic/Likely pathogenic (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available