E18Q (p.Glu18Gln) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E18Q (p.Glu18Gln) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes experimental measurements and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- NCI-TCGA Cosmic COSV5683
- cosmic curated COSV56839
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.13
- MetaSVM -1.05
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.667