P47L (p.Pro47Leu) variant of CMA1 (Chymase)
P47L (p.Pro47Leu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- gnomAD 14-24507425-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 0.40
- PolyPhen-2 0.04
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available