D638E (p.Asp638Glu) variant of BRAF (P15056)
D638E (p.Asp638Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; BRAF-related disorder; Melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
D638E (p.Asp638Glu) variant details
- p.Asp638Glu
- rs180177042
- ClinGen CA279981
- ClinVar RCV000015015
- ClinVar RCV000033337
- Pathogenic
- Inborn genetic diseases; BRAF-related disorder; Melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM -0.03
- PolyPhen-2 1.00
- EVE 0.71
- MutPred 0.98
- ClinVar: Pathogenic (Inborn genetic diseases; BRAF-related disorder; Melanoma)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of… (PMID 16372351)
- Cited in: Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. (PMID 16804887)