V45A (p.Val45Ala) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V45A (p.Val45Ala) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs2513448404
- ClinGen CA402715586
- ClinVar RCV003660075
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.56
- MetaSVM 0.13
- CADD 24.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.523