K46R (p.Lys46Arg) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K46R (p.Lys46Arg) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes experimental measurements and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- rs2047139560
- ClinGen CA402715591
- ClinVar RCV001034514
- Ensembl rs2047139560
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.35
- MetaSVM -0.57
- PolyPhen-2 0.98
- SIFT 1.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.412