F114L (p.Phe114Leu) variant of CYP17A1 (P05093)
F114L (p.Phe114Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- rs774228870
- ClinGen CA377940451
- ClinVar RCV003545330
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.45
- CADD 6.97
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in AH5)
- UniProt: Likely pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available