A56S (p.Ala56Ser) variant of USH2A (Usherin)
A56S (p.Ala56Ser) 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.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.15
- MetaSVM -0.94
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available