Q262P (p.Gln262Pro) variant of BRAF (P15056)
Q262P (p.Gln262Pro) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Q262P (p.Gln262Pro) variant details
- p.Gln262Pro
- rs397516904
- ClinGen CA280033
- ClinVar RCV000208128
- ClinVar RCV000392102
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided; RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)