A18G (p.Ala18Gly) variant of CACNA1D (Q01668)
A18G (p.Ala18Gly) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- ExAC rs765724402
- TOPMed rs765724402
- gnomAD rs765724402
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.24
- MetaLR 0.70
- MetaSVM -0.36
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available