L31F (p.Leu31Phe) variant of CYP17A1 (P05093)
L31F (p.Leu31Phe) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- ExAC rs777270119
- gnomAD rs777270119
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available