R20H (p.Arg20His) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R20H (p.Arg20His) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs375068828
- ClinGen CA8975116
- ClinVar RCV001237367
- ClinVar RCV004960611
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.18
- MetaSVM -0.93
- CADD 29.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.227
- 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)