G38A (p.Gly38Ala) variant of CACNA1D (Q01668)
G38A (p.Gly38Ala) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- ExAC rs752623993
- gnomAD rs752623993
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.16
- CADD 21.60
- PolyPhen-2 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available