A12S (p.Ala12Ser) variant of KEAP1 (Q14145)
A12S (p.Ala12Ser) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- cosmic curated COSV50645
- TOPMed rs1914986474
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available