V27I (p.Val27Ile) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V27I (p.Val27Ile) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- ExAC rs774070850
- TOPMed rs774070850
- gnomAD rs774070850
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.96
- CADD 15.70
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.287