M1L (p.Met1Leu) variant of HSD3B2 (P26439)
M1L (p.Met1Leu) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs776656223
- ClinGen CA1035855
- ClinVar RCV003570783
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- MetaLR 0.97
- MetaSVM 1.48
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available