A27S (p.Ala27Ser) variant of KEAP1 (Q14145)
A27S (p.Ala27Ser) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- TOPMed rs1181065854
- gnomAD rs1181065854
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- CADD 1.49
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available