I56T (p.Ile56Thr) variant of CMA1 (Chymase)
I56T (p.Ile56Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- gnomAD 14-24507398-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available