R45W (p.Arg45Trp) variant of MCL1 (Q07820)
R45W (p.Arg45Trp) 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 0.37 / 1. The record also includes population frequency data and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs587712554
- ClinGen CA342326921
- cosmic curated COSV57190
- ClinVar RCV004098987
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available