S69N (p.Ser69Asn) variant of USH2A (Usherin)
S69N (p.Ser69Asn) in USH2A (Usherin) 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.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- ESP rs377254440
- ExAC rs377254440
- TOPMed rs377254440
- gnomAD rs377254440
- Uncertain significance
- Missense
- MetaLR 0.11
- MetaSVM -0.77
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available