N4Y (p.Asn4Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
N4Y (p.Asn4Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N4Y (p.Asn4Tyr) variant details
- p.Asn4Tyr
- gnomAD rs1253368761
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.33
- MetaLR 0.16
- MetaSVM -0.88
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0412