A44V (p.Ala44Val) variant of MCL1 (Q07820)
A44V (p.Ala44Val) in MCL1 (Q07820) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs919674275
- ClinGen CA30087836
- cosmic curated COSV57191
- ClinVar RCV004318811
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available