D37E (p.Asp37Glu) variant of CALCB (P10092)
D37E (p.Asp37Glu) in CALCB (P10092) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- TOPMed rs934096451
- gnomAD rs934096451
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.08
- CADD 14.30
- PolyPhen-2 0.74
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available