M36L (p.Met36Leu) variant of CMA1 (Chymase)
M36L (p.Met36Leu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M36L (p.Met36Leu) variant details
- p.Met36Leu
- ExAC rs753617059
- TOPMed rs753617059
- gnomAD rs753617059
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 24.80
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available