G36R (p.Gly36Arg) variant of CACNA1D (Q01668)
G36R (p.Gly36Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- gnomAD rs1479704711
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.46
- MetaLR 0.88
- MetaSVM 0.81
- CADD 25.00
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available