E20D (p.Glu20Asp) variant of CASQ2 (Calsequestrin-2)
E20D (p.Glu20Asp) in CASQ2 (Calsequestrin-2) is a missense change. 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.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs1649205795
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.48
- MetaLR 0.37
- MetaSVM -0.52
- CADD 23.10
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available