V42I (p.Val42Ile) variant of CMA1 (Chymase)
V42I (p.Val42Ile) 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 and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ESP rs368187838
- ExAC rs368187838
- TOPMed rs368187838
- gnomAD rs368187838
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available