D23N (p.Asp23Asn) variant of RAF1 (P04049)
D23N (p.Asp23Asn) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs2059451949
- ClinGen CA351485142
- ClinVar RCV001241834
- gnomAD rs2059451949
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.76
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.24
- 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 -0.671