D22N (p.Asp22Asn) variant of BRAF (P15056)
D22N (p.Asp22Asn) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- rs397507456
- ClinGen CA135131
- cosmic curated COSV99071
- ClinVar RCV000037950
- Benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.50
- MetaLR 0.31
- MetaSVM -0.70
- CADD 24.10
- PolyPhen-2 0.81
- SIFT 0.20
- ClinVar: Benign (RASopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.13
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)