R20C (p.Arg20Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R20C (p.Arg20Cys) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs373553230
- ClinGen CA8975115
- cosmic curated COSV56845
- ClinVar RCV001041211
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.32
- ESM-1b 0.69
- AlphaMissense 0.72
- MetaLR 0.16
- MetaSVM -0.98
- CADD 24.70
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)