A19V (p.Ala19Val) variant of MCL1 (Q07820)
A19V (p.Ala19Val) in MCL1 (Q07820) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs1490867890
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57189
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.09
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.9e-05)
- Structural context available