Y38C (p.Tyr38Cys) variant of CMA1 (Chymase)
Y38C (p.Tyr38Cys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- ExAC rs763060029
- gnomAD rs763060029
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 19.30
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available