I72T (p.Ile72Thr) variant of CMA1 (Chymase)
I72T (p.Ile72Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- ExAC rs758391344
- gnomAD rs758391344
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.68
- CADD 23.60
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available