D45N (p.Asp45Asn) variant of RAF1 (P04049)
D45N (p.Asp45Asn) 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 0.46 / 1. The record also includes experimental measurements and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs1575600313
- ClinGen CA351485007
- ClinVar RCV000795085
- Ensembl rs1575600313
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.20
- MetaLR 0.38
- MetaSVM -0.43
- PolyPhen-2 0.79
- SIFT 0.33
- MutPred 0.17
- 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 -0.126