N55D (p.Asn55Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
N55D (p.Asn55Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N55D (p.Asn55Asp) variant details
- p.Asn55Asp
- rs200025824
- ClinGen CA8975246
- ClinVar RCV000792979
- ClinVar RCV003338795
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.11
- MetaSVM -0.85
- CADD 21.30
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)