F53L (p.Phe53Leu) variant of CYP17A1 (P05093)
F53L (p.Phe53Leu) in CYP17A1 (P05093) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- ExAC rs746908611
- gnomAD rs746908611
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64004
- Variant assessed as somatic; moderate impact.
- in AH5
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.17
- CADD 15.50
- PolyPhen-2 0.12
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact. (in AH5)
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available