N13D (p.Asn13Asp) variant of RAF1 (P04049)
N13D (p.Asn13Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N13D (p.Asn13Asp) variant details
- p.Asn13Asp
- rs1382771046
- ClinGen CA351485209
- ClinVar RCV002355164
- ClinVar RCV003102450
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.923