R101Q (p.Arg101Gln) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R101Q (p.Arg101Gln) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- cosmic curated COSV56851
- gnomAD rs1248345919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM -0.58
- CADD 32.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available