K34R (p.Lys34Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K34R (p.Lys34Arg) 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- rs2146618039
- ClinGen CA402715306
- ClinVar RCV003028502
- Ensembl rs2146618039
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.38
- MetaSVM -0.31
- CADD 26.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.39