G18A (p.Gly18Ala) variant of CACNA1B (Q00975)
G18A (p.Gly18Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- Ensembl rs2133211248
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.33
- MetaLR 0.85
- MetaSVM 0.48
- CADD 21.50
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available