A18V (p.Ala18Val) variant of CACNB2 (Q08289)
A18V (p.Ala18Val) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs786205788
- ClinGen CA301887
- ClinVar RCV000170883
- TOPMed rs786205788
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available