I4T (p.Ile4Thr) variant of RAF1 (P04049)
I4T (p.Ile4Thr) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs2059454224
- ClinGen CA351485267
- cosmic curated COSV99313
- ClinVar RCV003846461
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.35
- MetaLR 0.25
- MetaSVM -0.66
- PolyPhen-2 0.16
- SIFT 0.01
- MutPred 0.30
- 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 -0.0513