D41H (p.Asp41His) variant of TNFRSF1A (P19438)
D41H (p.Asp41His) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- rs199882512
- ClinGen CA6405607
- ClinVar RCV000658632
- ClinVar RCV001376777
- Conflicting interpretations
- not provided; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.55
- CADD 24.50
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; TNF receptor-associated periodic fever syndrome (T)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)
- Cited in: ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the… (PMID 32176780)