P75L (p.Pro75Leu) variant of TNFRSF1A (P19438)
P75L (p.Pro75Leu) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; TNF receptor-associated periodic fever syndrome (TR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs4149637
- ClinGen CA6405585
- ClinVar RCV000534430
- ClinVar RCV001705299
- Conflicting interpretations
- not specified; not provided; TNF receptor-associated periodic fever syndrome (TR
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.91
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; TNF receptor-associated periodic fe)
- EBI: Benign (in FPF)
- UniProt: Benign (in FPF)
- Most common in the 1KG:LWK population (allele frequency 0.19)
- Structural context available
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)
- Cited in: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly… (PMID 10199409)