C14F (p.Cys14Phe) variant of KEAP1 (Q14145)
C14F (p.Cys14Phe) in KEAP1 (Q14145) is a missense change. 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.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- Ensembl rs2144631318
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available