D22E (p.Asp22Glu) variant of BRAF (P15056)
D22E (p.Asp22Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22E (p.Asp22Glu) variant details
- p.Asp22Glu
- rs543953468
- 1000Genomes rs543953468
- ClinGen CA369590165
- ClinVar RCV002292229
- Uncertain significance
- Noonan syndrome 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- MetaLR 0.24
- MetaSVM -0.79
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Noonan syndrome 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.13
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)