D41E (p.Asp41Glu) variant of TNFRSF1A (P19438)
D41E (p.Asp41Glu) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoinflammatory syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- rs104895271
- ClinGen CA280695
- ClinVar RCV000083896
- ClinVar RCV000255687
- Pathogenic/Likely pathogenic
- Autoinflammatory syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.54
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Pathogenic/Likely pathogenic (Autoinflammatory syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Amish population (allele frequency 0.0011)
- 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)