E18A (p.Glu18Ala) variant of CMA1 (Chymase)
E18A (p.Glu18Ala) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E18A (p.Glu18Ala) variant details
- p.Glu18Ala
- gnomAD rs1439294475
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available