E501Q (p.Glu501Gln) variant of BRAF (P15056)
E501Q (p.Glu501Gln) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
E501Q (p.Glu501Gln) variant details
- p.Glu501Gln
- rs180177038
- ClinGen CA280010
- cosmic curated COSV10730
- ClinVar RCV000037923
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.40
- PolyPhen-2 1.00
- EVE 0.70
- MutPred 0.97
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)