A13G (p.Ala13Gly) variant of CACNB2 (Q08289)
A13G (p.Ala13Gly) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- gnomAD 10-18140774-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available