G138V (p.Gly138Val) variant of CYP17A1 (P05093)
G138V (p.Gly138Val) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G138V (p.Gly138Val) variant details
- p.Gly138Val
- ExAC rs748494285
- gnomAD rs748494285
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.67
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available