A30V (p.Ala30Val) variant of CACNB2 (Q08289)
A30V (p.Ala30Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD rs1351768521
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available