R47W (p.Arg47Trp) variant of GNA13 (Q14344)
R47W (p.Arg47Trp) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- ExAC rs753352986
- gnomAD rs753352986
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.65
- MetaLR 0.82
- MetaSVM 0.63
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available