R56T (p.Arg56Thr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R56T (p.Arg56Thr) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R56T (p.Arg56Thr) variant details
- p.Arg56Thr
- gnomAD rs1277689015
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.37
- MetaSVM -0.58
- CADD 21.80
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available