M1V (p.Met1Val) variant of HSD17B3 (P37058)
M1V (p.Met1Val) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1354232643
- ClinGen CA374126784
- ClinVar RCV003459907
- Likely pathogenic
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- MetaLR 0.39
- MetaSVM -0.51
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available