V487G (p.Val487Gly) variant of BRAF (P15056)
V487G (p.Val487Gly) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
V487G (p.Val487Gly) variant details
- p.Val487Gly
- rs397516893
- ClinGen CA280007
- NCI-TCGA Cosmic COSV5627
- ClinVar RCV000037922
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.99
- MetaLR 0.19
- MetaSVM -0.86
- PolyPhen-2 0.48
- EVE 0.70
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; Inborn genetic diseases; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)