C62G (p.Cys62Gly) variant of TNFRSF1A (P19438)
C62G (p.Cys62Gly) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C62G (p.Cys62Gly) variant details
- p.Cys62Gly
- rs104895225
- ClinGen CA280161
- ClinVar RCV000013136
- ClinVar RCV000624870
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Pathogenic (in FPF)
- UniProt: Pathogenic (in FPF)
- Structural context available
- Cited in: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins… (PMID 11443543)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)