M36V (p.Met36Val) variant of CMA1 (Chymase)
M36V (p.Met36Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M36V (p.Met36Val) variant details
- p.Met36Val
- ExAC rs753617059
- TOPMed rs753617059
- gnomAD rs753617059
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available