A34E (p.Ala34Glu) variant of CACNB2 (Q08289)
A34E (p.Ala34Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- ExAC rs755229434
- TOPMed rs755229434
- gnomAD rs755229434
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available