G20W (p.Gly20Trp) variant of CMA1 (Chymase)
G20W (p.Gly20Trp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G20W (p.Gly20Trp) variant details
- p.Gly20Trp
- ExAC rs762814223
- TOPMed rs762814223
- gnomAD rs762814223
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available