S50F (p.Ser50Phe) variant of USH2A (Usherin)
S50F (p.Ser50Phe) in USH2A (Usherin) is a missense change. The record also includes variant effect predictions and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- cosmic curated COSV10513
- 1000Genomes rs200075564
- Missense
- MetaLR 0.17
- MetaSVM -0.90
- SIFT 0.03
- Structural context available