S49N (p.Ser49Asn) variant of PRPH2 (Peripherin-2)
S49N (p.Ser49Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- ESP rs146844134
- ExAC rs146844134
- TOPMed rs146844134
- gnomAD rs146844134
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available