Y85C (p.Tyr85Cys) variant of BRAF (P15056)
Y85C (p.Tyr85Cys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y85C (p.Tyr85Cys) variant details
- p.Tyr85Cys
- rs1131691387
- ClinGen CA369593942
- ClinVar RCV000588426
- ClinVar RCV002291648
- Uncertain significance
- Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.42
- MetaSVM -0.04
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- 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)