I41T (p.Ile41Thr) variant of CMA1 (Chymase)
I41T (p.Ile41Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I41T (p.Ile41Thr) variant details
- p.Ile41Thr
- TOPMed rs2043867496
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.48
- ESM-1b 0.47
- AlphaMissense 0.37
- CADD 17.00
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available