S12G (p.Ser12Gly) variant of RAF1 (P04049)
S12G (p.Ser12Gly) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- rs2125453642
- ClinGen CA351485217
- ClinVar RCV001755058
- ClinVar RCV001868549
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.55
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.299