A355T (p.Ala355Thr) variant of CYP17A1 (P05093)
A355T (p.Ala355Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A355T (p.Ala355Thr) variant details
- p.Ala355Thr
- rs751960113
- cosmic curated COSV64004
- ClinVar RCV004586262
- ExAC rs751960113
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.79
- MetaLR 0.76
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available