A53V (p.Ala53Val) variant of MCL1 (Q07820)
A53V (p.Ala53Val) in MCL1 (Q07820) 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.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- Ensembl rs2101700319
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.04
- CADD 17.90
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available