R128W (p.Arg128Trp) variant of GNA13 (Q14344)
R128W (p.Arg128Trp) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
R128W (p.Arg128Trp) variant details
- p.Arg128Trp
- gnomAD 17-65053630-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.59
- MetaLR 0.84
- MetaSVM 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available