M1T (p.Met1Thr) variant of CYP17A1 (P05093)
M1T (p.Met1Thr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1361284521
- ClinGen CA377941182
- ClinVar RCV001048441
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- MetaLR 0.43
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available