P34L (p.Pro34Leu) variant of CMA1 (Chymase)
P34L (p.Pro34Leu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD rs995567512
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available