A64V (p.Ala64Val) variant of CMA1 (Chymase)
A64V (p.Ala64Val) in CMA1 (Chymase) 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 0.84 / 1. The record also includes population frequency data and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available