C14W (p.Cys14Trp) variant of GNA13 (Q14344)
C14W (p.Cys14Trp) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
C14W (p.Cys14Trp) variant details
- p.Cys14Trp
- 1000Genomes rs200798977
- ExAC rs200798977
- gnomAD rs200798977
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.77
- MetaLR 0.62
- MetaSVM 0.16
- CADD 28.40
- PolyPhen-2 0.73
- SIFT 0.05
- Population evidence available