S7L (p.Ser7Leu) variant of USH2A (Usherin)
S7L (p.Ser7Leu) 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.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- NCI-TCGA Cosmic COSV5632
- cosmic curated COSV56327
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.01
- MetaSVM -0.95
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available