I112V (p.Ile112Val) variant of CYP17A1 (P05093)
I112V (p.Ile112Val) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- TOPMed rs1844148161
- gnomAD rs1844148161
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.26
- CADD 3.52
- PolyPhen-2 0.34
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available