I72V (p.Ile72Val) variant of CMA1 (Chymase)
I72V (p.Ile72Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- ExAC rs779823629
- TOPMed rs779823629
- gnomAD rs779823629
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.18
- ESM-1b 0.15
- AlphaMissense 0.13
- CADD 9.39
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Amish population (allele frequency 1)
- Structural context available