S29Y (p.Ser29Tyr) variant of USH2A (Usherin)
S29Y (p.Ser29Tyr) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- NCI-TCGA Cosmic COSV5639
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.05
- MetaSVM -1.05
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available