P18L (p.Pro18Leu) variant of KEAP1 (Q14145)
P18L (p.Pro18Leu) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- Ensembl rs2144631166
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.21
- CADD 21.70
- PolyPhen-2 0.18
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available