S21L (p.Ser21Leu) variant of KEAP1 (Q14145)
S21L (p.Ser21Leu) 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.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- TOPMed rs1914985027
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.59
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available