P3L (p.Pro3Leu) variant of KEAP1 (Q14145)
P3L (p.Pro3Leu) in KEAP1 (Q14145) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs1914987906
- ClinGen CA403999509
- ClinVar RCV004409227
- gnomAD rs1914987906
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available