N62I (p.Asn62Ile) variant of CD3E (P07766)
N62I (p.Asn62Ile) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N62I (p.Asn62Ile) variant details
- p.Asn62Ile
- ExAC rs201661177
- gnomAD rs201661177
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- MetaLR 0.33
- MetaSVM -0.98
- CADD 17.10
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available