R33L (p.Arg33Leu) variant of CMA1 (Chymase)
R33L (p.Arg33Leu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- ESP rs201020585
- ExAC rs201020585
- TOPMed rs201020585
- gnomAD rs201020585
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 23.30
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Amish population (allele frequency 1)
- Structural context available