S86R (p.Ser86Arg) variant of TNFRSF1A (P19438)
S86R (p.Ser86Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S86R (p.Ser86Arg) variant details
- p.Ser86Arg
- rs201798720
- ClinGen CA383550570
- ClinVar RCV004473165
- ExAC rs201798720
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.46
- CADD 0.00
- PolyPhen-2 0.20
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)