V42A (p.Val42Ala) variant of CMA1 (Chymase)
V42A (p.Val42Ala) 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.
V42A (p.Val42Ala) variant details
- p.Val42Ala
- gnomAD rs1459394785
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 0.33
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available