P68R (p.Pro68Arg) variant of NOTCH3 (Q9UM47)
P68R (p.Pro68Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
P68R (p.Pro68Arg) variant details
- p.Pro68Arg
- ESP rs146810942
- ExAC rs146810942
- TOPMed rs146810942
- gnomAD rs146810942
- Likely benign
- Missense
- MetaLR 0.59
- MetaSVM -0.44
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available