A28T (p.Ala28Thr) variant of MCL1 (Q07820)
A28T (p.Ala28Thr) in MCL1 (Q07820) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- ExAC rs768684341
- TOPMed rs768684341
- gnomAD rs768684341
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available