V17A (p.Val17Ala) variant of CACNB2 (Q08289)
V17A (p.Val17Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- TOPMed rs530601558
- gnomAD rs530601558
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.26
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available