R8G (p.Arg8Gly) variant of GNA13 (Q14344)
R8G (p.Arg8Gly) in GNA13 (Q14344) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- gnomAD rs1908070866
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.25
- MetaLR 0.42
- MetaSVM -0.49
- CADD 23.40
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available