L55P (p.Leu55Pro) variant of CMA1 (Chymase)
L55P (p.Leu55Pro) 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.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- gnomAD 14-24507401-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available