A42V (p.Ala42Val) variant of MCL1 (Q07820)
A42V (p.Ala42Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs780046930
- TOPMed rs780046930
- gnomAD rs780046930
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available