G17V (p.Gly17Val) variant of CACNA1B (Q00975)
G17V (p.Gly17Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- TOPMed rs1341838392
- gnomAD rs1341838392
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.44
- MetaLR 0.85
- MetaSVM 0.27
- CADD 22.80
- PolyPhen-2 0.31
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available