Q78R (p.Gln78Arg) variant of GNA13 (Q14344)
Q78R (p.Gln78Arg) 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 0.35 / 1. The record also includes population frequency data.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- Ensembl rs1598505850
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.47
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)