P34R (p.Pro34Arg) variant of CMA1 (Chymase)
P34R (p.Pro34Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD rs995567512
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available