A53P (p.Ala53Pro) variant of MCL1 (Q07820)
A53P (p.Ala53Pro) in MCL1 (Q07820) 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.
A53P (p.Ala53Pro) variant details
- p.Ala53Pro
- ExAC rs764039573
- TOPMed rs764039573
- gnomAD rs764039573
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- CADD 21.70
- PolyPhen-2 0.35
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available