A29V (p.Ala29Val) variant of CACNA1B (Q00975)
A29V (p.Ala29Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- cosmic curated COSV53114
- gnomAD rs1213311547
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- MetaLR 0.69
- MetaSVM -0.00
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available