I23T (p.Ile23Thr) variant of CMA1 (Chymase)
I23T (p.Ile23Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- ExAC rs760625006
- TOPMed rs760625006
- gnomAD rs760625006
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 23.80
- PolyPhen-2 0.30
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available