D44A (p.Asp44Ala) variant of RAF1 (P04049)
D44A (p.Asp44Ala) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D44A (p.Asp44Ala) variant details
- p.Asp44Ala
- rs756420598
- ClinGen CA351485011
- ClinVar RCV003832955
- ExAC rs756420598
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.38
- MetaLR 0.25
- MetaSVM -0.74
- PolyPhen-2 0.55
- SIFT 0.02
- MutPred 0.28
- ClinVar: Uncertain significance (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 -0.427