G265R (p.Gly265Arg) variant of BRAF (P15056)
G265R (p.Gly265Arg) in BRAF (P15056) 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 0.82 / 1. The record also includes published literature and structural context.
G265R (p.Gly265Arg) variant details
- p.Gly265Arg
- rs397516905
- ClinGen CA261666
- cosmic curated COSV10942
- ClinVar RCV000037962
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)