P48Q (p.Pro48Gln) variant of NOTCH3 (Q9UM47)
P48Q (p.Pro48Gln) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- TOPMed rs1362111590
- gnomAD rs1362111590
- Uncertain significance
- Missense
- MetaLR 0.85
- MetaSVM 0.89
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available