Y82C (p.Tyr82Cys) variant of BRAF (P15056)
Y82C (p.Tyr82Cys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 7; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- rs2129062326
- ClinGen CA369593965
- ClinVar RCV003083474
- ClinVar RCV006554672
- Uncertain significance
- Noonan syndrome 7; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- MetaLR 0.75
- MetaSVM 0.64
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 7; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)