G6R (p.Gly6Arg) variant of RAF1 (P04049)
G6R (p.Gly6Arg) in RAF1 (P04049) 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 0.55 / 1. The record also includes experimental measurements and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1575600689
- ClinGen CA351485256
- ClinVar RCV000814962
- ClinVar RCV002397688
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.78
- MetaLR 0.54
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.555