A246P (p.Ala246Pro) variant of BRAF (P15056)
A246P (p.Ala246Pro) 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 0.78 / 1. The record also includes published literature and structural context.
A246P (p.Ala246Pro) variant details
- p.Ala246Pro
- rs180177034
- ClinGen CA279968
- ClinVar RCV000014998
- ClinVar RCV000033285
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)