E44G (p.Glu44Gly) variant of CALCB (P10092)
E44G (p.Glu44Gly) in CALCB (P10092) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- rs376051795
- ESP rs376051795
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.20
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available