G43R (p.Gly43Arg) variant of CACNA1A (O00555)
G43R (p.Gly43Arg) 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.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- ExAC rs763931319
- TOPMed rs763931319
- gnomAD rs763931319
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.57
- MetaLR 0.92
- MetaSVM 0.52
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available