A25E (p.Ala25Glu) variant of CALCB (P10092)
A25E (p.Ala25Glu) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- cosmic curated COSV60834
- TOPMed rs1311329522
- gnomAD rs1311329522
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available