S56L (p.Ser56Leu) variant of TNFRSF1A (P19438)
S56L (p.Ser56Leu) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; TNF receptor-associated periodic fever syndrome (TRAPS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S56L (p.Ser56Leu) variant details
- p.Ser56Leu
- rs199961053
- ClinGen CA6405601
- NCI-TCGA Cosmic COSV5082
- cosmic curated COSV50828
- Uncertain significance
- Inborn genetic diseases; TNF receptor-associated periodic fever syndrome (TRAPS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; TNF receptor-associated periodic fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)