G69E (p.Gly69Glu) variant of CMA1 (Chymase)
G69E (p.Gly69Glu) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- 1000Genomes rs539562095
- ExAC rs539562095
- gnomAD rs539562095
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available