Q257R (p.Gln257Arg) variant of BRAF (P15056)
Q257R (p.Gln257Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q257R (p.Gln257Arg) variant details
- p.Gln257Arg
- rs180177035
- ClinGen CA222583
- ClinVar RCV000015007
- ClinVar RCV000033289
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- MetaLR 0.88
- MetaSVM 1.02
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)