N4N (p.Asn4Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
N4N (p.Asn4Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N4N (p.Asn4Asn) variant details
- p.Asn4Asn
- rs371567712
- gnomAD 11-119206429-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 12.30
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0412
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)