A15G (p.Ala15Gly) variant of CACNB2 (Q08289)
A15G (p.Ala15Gly) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 10-18140780-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available