L17Q (p.Leu17Gln) variant of KEAP1 (Q14145)
L17Q (p.Leu17Gln) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- ExAC rs753277984
- TOPMed rs753277984
- gnomAD rs753277984
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available