R30W (p.Arg30Trp) variant of GNA11 (P29992)
R30W (p.Arg30Trp) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs2145300360
- ClinGen CA403299840
- ClinVar RCV002851853
- Ensembl rs2145300360
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available