R37G (p.Arg37Gly) variant of CACNA1A (O00555)
R37G (p.Arg37Gly) 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 0.42 / 1. The record also includes population frequency data and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- rs780987148
- ClinGen CA404971193
- ClinVar RCV001767299
- ExAC rs780987148
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.30
- MetaLR 0.76
- MetaSVM -0.09
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available