W121R (p.Trp121Arg) variant of CYP17A1 (P05093)
W121R (p.Trp121Arg) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W121R (p.Trp121Arg) variant details
- p.Trp121Arg
- rs2493243148
- ClinGen CA377940414
- ClinVar RCV004527217
- UniProt VAR 073044
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Population evidence available
- Structural context available
- Cited in: Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome… (PMID 25650406)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)