C58Y (p.Cys58Tyr) variant of USH2A (Usherin)
C58Y (p.Cys58Tyr) in USH2A (Usherin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Usher syndrome type 2A. The record also includes variant effect predictions and structural context.
C58Y (p.Cys58Tyr) variant details
- p.Cys58Tyr
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- Uncertain significance
- Usher syndrome type 2A
- Missense
- MetaLR 0.21
- MetaSVM -0.68
- SIFT 0.02
- ClinVar: Uncertain significance (Usher syndrome type 2A)
- UniProt: Uncertain significance
- Structural context available