E18Q (p.Glu18Gln) variant of USH2A (Usherin)
E18Q (p.Glu18Gln) 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.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- NCI-TCGA Cosmic COSV5633
- cosmic curated COSV56331
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.04
- MetaSVM -1.03
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available