P30H (p.Pro30His) variant of RAF1 (P04049)
P30H (p.Pro30His) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- rs1179404518
- ClinGen CA351485095
- ClinVar RCV003855669
- gnomAD rs1179404518
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.63
- MetaLR 0.56
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.49
- 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 -0.168