A7G (p.Ala7Gly) variant of RAF1 (P04049)
A7G (p.Ala7Gly) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs200365094
- ClinGen CA69577094
- ClinVar RCV001957904
- ClinVar RCV003320859
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.14
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.31
- ClinVar: Uncertain significance (Cardiovascular phenotype; 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 -0.397