K40E (p.Lys40Glu) variant of MCL1 (Q07820)
K40E (p.Lys40Glu) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- ExAC rs755460962
- gnomAD rs755460962
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available