G40R (p.Gly40Arg) variant of CACNA1A (O00555)
G40R (p.Gly40Arg) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- TOPMed rs1240542236
- gnomAD rs1240542236
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.56
- MetaLR 0.84
- MetaSVM 0.81
- CADD 27.40
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available