G15R (p.Gly15Arg) variant of CACNA1A (O00555)
G15R (p.Gly15Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs2513710149
- ClinGen CA404971319
- ClinVar RCV002461831
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.56
- MetaLR 0.92
- MetaSVM 0.64
- CADD 27.80
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available