G2A (p.Gly2Ala) variant of CALCB (P10092)
G2A (p.Gly2Ala) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- ExAC rs776318498
- gnomAD rs776318498
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.14
- CADD 20.20
- PolyPhen-2 0.33
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available