A33T (p.Ala33Thr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A33T (p.Ala33Thr) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs771098028
- ClinGen CA8975119
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56841
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.43
- MetaSVM -0.23
- CADD 27.70
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.385
- 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)