N20D (p.Asn20Asp) variant of BRAF (P15056)
N20D (p.Asn20Asp) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- rs1321934224
- ClinGen CA369590181
- ClinVar RCV001338045
- ClinVar RCV003169586
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0152