T79M (p.Thr79Met) variant of TNFRSF1A (P19438)
T79M (p.Thr79Met) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple sclerosis; not provided; TNF receptor-associated periodic fever syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T79M (p.Thr79Met) variant details
- p.Thr79Met
- rs104895219
- ClinGen CA280147
- cosmic curated COSV50829
- ClinVar RCV000013129
- Pathogenic
- Multiple sclerosis; not provided; TNF receptor-associated periodic fever syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.70
- AlphaMissense 0.61
- MetaLR 0.91
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Multiple sclerosis; not provided; TNF receptor-associated period)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)
- Cited in: Linkage of familial Hibernian fever to chromosome 12p13. (PMID 9585614)