G54S (p.Gly54Ser) variant of MCL1 (Q07820)
G54S (p.Gly54Ser) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- ExAC rs760622088
- TOPMed rs760622088
- gnomAD rs760622088
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.59
- SIFT 0.23
- Most common in the South Asian population (allele frequency 0.00027)
- Structural context available