I21V (p.Ile21Val) variant of CACNB2 (Q08289)
I21V (p.Ile21Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- gnomAD 10-18140797-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.20
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available