E44D (p.Glu44Asp) variant of CALCB (P10092)
E44D (p.Glu44Asp) 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 0.17 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs751247746
- ClinGen CA5897082
- ClinVar RCV004192578
- ExAC rs751247746
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available