R15L (p.Arg15Leu) variant of KEAP1 (Q14145)
R15L (p.Arg15Leu) in KEAP1 (Q14145) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- cosmic curated COSV50264
- 1000Genomes rs144429440
- ESP rs144429440
- ExAC rs144429440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available