I56V (p.Ile56Val) variant of CMA1 (Chymase)
I56V (p.Ile56Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- ExAC rs777466346
- gnomAD rs777466346
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 12.10
- PolyPhen-2 0.10
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available