L55H (p.Leu55His) variant of CMA1 (Chymase)
L55H (p.Leu55His) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L55H (p.Leu55His) variant details
- p.Leu55His
- gnomAD 14-24507401-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available