G52V (p.Gly52Val) variant of CMA1 (Chymase)
G52V (p.Gly52Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- ExAC rs200189048
- TOPMed rs200189048
- gnomAD rs200189048
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available