A26E (p.Ala26Glu) variant of CALCB (P10092)
A26E (p.Ala26Glu) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD 11-15074795-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available