R30H (p.Arg30His) variant of MCL1 (Q07820)
R30H (p.Arg30His) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- TOPMed rs1024728611
- gnomAD rs1024728611
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available