V26I (p.Val26Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V26I (p.Val26Ile) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- TOPMed rs1248936515
- gnomAD rs1248936515
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.27
- MetaSVM -0.72
- CADD 22.40
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.649