G25D (p.Gly25Asp) variant of CMA1 (Chymase)
G25D (p.Gly25Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- TOPMed rs1361829193
- gnomAD rs1361829193
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available