V42L (p.Val42Leu) variant of CMA1 (Chymase)
V42L (p.Val42Leu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- ESP rs368187838
- ExAC rs368187838
- TOPMed rs368187838
- gnomAD rs368187838
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available