P24L (p.Pro24Leu) variant of KEAP1 (Q14145)
P24L (p.Pro24Leu) in KEAP1 (Q14145) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- Ensembl rs2144630920
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available