G8C (p.Gly8Cys) variant of BRAF (P15056)
G8C (p.Gly8Cys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melanoma, cutaneous malignant, susceptibility to, 1; Noonan syndrome 7; LEOPARD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- rs1205861530
- ClinGen CA369590253
- cosmic curated COSV56221
- ClinVar RCV003842171
- Uncertain significance
- Melanoma, cutaneous malignant, susceptibility to, 1; Noonan syndrome 7; LEOPARD
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- MetaLR 0.20
- MetaSVM -0.89
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Melanoma, cutaneous malignant, susceptibility to, 1; Noonan synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0307
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)