V263G (p.Val263Gly) variant of RAF1 (P04049)
V263G (p.Val263Gly) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
V263G (p.Val263Gly) variant details
- p.Val263Gly
- rs397516830
- ClinGen CA273745
- ClinVar RCV000037708
- ClinVar RCV000159078
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.98
- MetaLR 0.63
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)