P28L (p.Pro28Leu) variant of CYP17A1 (P05093)
P28L (p.Pro28Leu) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- cosmic curated COSV64004
- Ensembl rs1844176966
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.63
- CADD 23.00
- PolyPhen-2 0.69
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available