L12F (p.Leu12Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L12F (p.Leu12Phe) 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 0.23 / 1. The record also includes experimental measurements and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- TOPMed rs2081490867
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.11
- MetaSVM -1.06
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.788