K64T (p.Lys64Thr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K64T (p.Lys64Thr) 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 0.59 / 1. The record also includes structural context.
K64T (p.Lys64Thr) variant details
- p.Lys64Thr
- rs2148412041
- ClinGen CA402715710
- ClinVar RCV001950182
- Ensembl rs2148412041
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available