Y64S (p.Tyr64Ser) variant of CYP17A1 (P05093)
Y64S (p.Tyr64Ser) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y64S (p.Tyr64Ser) variant details
- p.Tyr64Ser
- rs1183147390
- UniProt VAR 001271
- gnomAD rs1183147390
- Pathogenic
- in AH5
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.67
- CADD 22.80
- PolyPhen-2 0.81
- SIFT 0.03
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of… (PMID 8396144)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)