Q134H (p.Gln134His) variant of GNA13 (Q14344)
Q134H (p.Gln134His) 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 0.37 / 1. The record also includes population frequency data.
Q134H (p.Gln134His) variant details
- p.Gln134His
- 1000Genomes rs201253039
- ExAC rs201253039
- TOPMed rs201253039
- gnomAD rs201253039
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.29
- MetaLR 0.57
- MetaSVM -0.60
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)