N46I (p.Asn46Ile) variant of NOTCH2 (Q04721)
N46I (p.Asn46Ile) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and structural context.
N46I (p.Asn46Ile) variant details
- p.Asn46Ile
- ExAC rs61788900
- gnomAD rs61788900
- Benign
- Missense
- MetaLR 0.30
- MetaSVM -0.50
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Structural context available