A52V (p.Ala52Val) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A52V (p.Ala52Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs2047140223
- ClinGen CA402715632
- ClinVar RCV003856491
- TOPMed rs2047140223
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.15
- MetaSVM -0.84
- CADD 22.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available