G18R (p.Gly18Arg) variant of CACNA1B (Q00975)
G18R (p.Gly18Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- TOPMed rs1313001996
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.45
- MetaLR 0.84
- MetaSVM 0.54
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.3e-05)
- Structural context available