E21D (p.Glu21Asp) variant of CMA1 (Chymase)
E21D (p.Glu21Asp) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- ExAC rs776902640
- TOPMed rs776902640
- gnomAD rs776902640
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available