C23F (p.Cys23Phe) variant of KEAP1 (Q14145)
C23F (p.Cys23Phe) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- cosmic curated COSV10581
- Ensembl rs2144630961
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.03
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available