I77V (p.Ile77Val) variant of BRAF (P15056)
I77V (p.Ile77Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- rs764408896
- ClinGen CA4517020
- ClinVar RCV001985544
- ClinVar RCV002442952
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.36
- MetaSVM -0.27
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 7; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)