M1V (p.Met1Val) variant of CYP21A2 (Steroid 21-hydroxylase)
M1V (p.Met1Val) in CYP21A2 (Steroid 21-hydroxylase) 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 0.37 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2151869976
- ClinGen CA363498576
- ClinVar RCV002007323
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- MetaLR 0.22
- MetaSVM -0.76
- PolyPhen-2 0.63
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available