V29A (p.Val29Ala) variant of CACNB2 (Q08289)
V29A (p.Val29Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- gnomAD 10-18140822-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available