M1I (p.Met1Ile) variant of CYP17A1 (P05093)
M1I (p.Met1Ile) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia; not provided; Deficiency of steroid 17-alpha-mon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs61754262
- ClinGen CA212296265
- ClinVar RCV002223055
- ClinVar RCV002502035
- Likely pathogenic
- Congenital adrenal hyperplasia; not provided; Deficiency of steroid 17-alpha-mon
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- MetaLR 0.32
- MetaSVM -0.34
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia; not provided; Deficiency of ster)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available