A13E (p.Ala13Glu) variant of CACNB2 (Q08289)
A13E (p.Ala13Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD 10-18140774-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available