T49R (p.Thr49Arg) variant of RAF1 (P04049)
T49R (p.Thr49Arg) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes experimental measurements and structural context.
T49R (p.Thr49Arg) variant details
- p.Thr49Arg
- rs2125452958
- ClinGen CA351484977
- ClinVar RCV002303341
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.78
- PolyPhen-2 0.05
- SIFT 0.04
- MutPred 0.23
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.332