A37V (p.Ala37Val) variant of CMA1 (Chymase)
A37V (p.Ala37Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- ExAC rs767494660
- TOPMed rs767494660
- gnomAD rs767494660
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 23.70
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available