R8K (p.Arg8Lys) variant of TNFRSF13B (O14836)
R8K (p.Arg8Lys) in TNFRSF13B (O14836) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- rs1400728221
- ClinGen CA398520653
- ClinVar RCV002939507
- gnomAD rs1400728221
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.16
- CADD 6.29
- PolyPhen-2 0.21
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)