R66K (p.Arg66Lys) variant of TNFRSF9 (Q07011)
R66K (p.Arg66Lys) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R66K (p.Arg66Lys) variant details
- p.Arg66Lys
- rs751355710
- ClinGen CA569316
- ClinVar RCV002711298
- ClinVar RCV004966061
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.08
- CADD 6.73
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)