H107R (p.His107Arg) variant of GNA13 (Q14344)
H107R (p.His107Arg) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
H107R (p.His107Arg) variant details
- p.His107Arg
- cosmic curated COSV71474
- 1000Genomes rs200421130
- ExAC rs200421130
- TOPMed rs200421130
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.60
- MetaLR 0.48
- MetaSVM -0.14
- CADD 23.30
- PolyPhen-2 0.58
- SIFT 0.33
- Most common in the 1KG:CHB population (allele frequency 0.0049)