Y38S (p.Tyr38Ser) variant of RAF1 (P04049)
Y38S (p.Tyr38Ser) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y38S (p.Tyr38Ser) variant details
- p.Tyr38Ser
- rs576041742
- ClinGen CA2259836
- ClinVar RCV000619923
- ClinVar RCV000811009
- Conflicting interpretations
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.35
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.267