V51I (p.Val51Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V51I (p.Val51Ile) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs1600177605
- ClinGen CA402715621
- cosmic curated COSV56843
- ClinVar RCV000801326
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.22
- ESM-1b 0.03
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.74
- CADD 22.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.912