M1V (p.Met1Val) variant of CYP17A1 (P05093)
M1V (p.Met1Val) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1590204913
- ClinGen CA377941185
- ClinVar RCV000806853
- ClinVar RCV001830758
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- MetaLR 0.26
- MetaSVM -0.61
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.77
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available