M1I (p.Met1Ile) variant of HSD17B3 (P37058)
M1I (p.Met1Ile) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Disorder of sexual differentiation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2130805147
- ClinGen CA374126781
- ClinVar RCV002273837
- Likely pathogenic
- Disorder of sexual differentiation
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- MetaLR 0.44
- MetaSVM -0.28
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Disorder of sexual differentiation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available