D116V (p.Asp116Val) variant of CYP17A1 (P05093)
D116V (p.Asp116Val) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D116V (p.Asp116Val) variant details
- p.Asp116Val
- rs104894148
- ClinGen CA115190
- ClinVar RCV000001866
- UniProt VAR 022748
- Pathogenic
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.62
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (17-alpha-hydroxylase/17,20-lyase deficiency, combined partial)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations… (PMID 12466376)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)