D23G (p.Asp23Gly) variant of RAF1 (P04049)
D23G (p.Asp23Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes experimental measurements and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- rs966682247
- ClinGen CA351485140
- ClinVar RCV003297323
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.23
- MetaLR 0.29
- MetaSVM -0.49
- PolyPhen-2 0.44
- SIFT 0.01
- MutPred 0.39
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.671