N13S (p.Asn13Ser) variant of RAF1 (P04049)
N13S (p.Asn13Ser) 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. The record also includes experimental measurements and structural context.
N13S (p.Asn13Ser) variant details
- p.Asn13Ser
- rs2470448464
- ClinGen CA351485207
- ClinVar RCV003288340
- ClinVar RCV006472268
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.923