N33S (p.Asn33Ser) variant of NOTCH1 (P46531)
N33S (p.Asn33Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The record also includes variant effect predictions and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs2133406228
- ClinGen CA375579103
- ClinVar RCV001981025
- Ensembl rs2133406228
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- MetaLR 0.15
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available