G14D (p.Gly14Asp) variant of RAF1 (P04049)
G14D (p.Gly14Asp) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs757333753
- ClinGen CA2259848
- cosmic curated COSV10586
- ClinVar RCV000475263
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.40
- MetaLR 0.51
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.46
- ClinVar: Uncertain significance (not provided; 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 -0.289