A16V (p.Ala16Val) variant of CACNB2 (Q08289)
A16V (p.Ala16Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- cosmic curated COSV56614
- gnomAD rs866894450
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available