R60H (p.Arg60His) variant of TNFRSF13B (O14836)
R60H (p.Arg60His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
R60H (p.Arg60His) variant details
- p.Arg60His
- rs373134429
- ClinGen CA8414095
- cosmic curated COSV55429
- NCI-TCGA Cosmic COSV9989
- Uncertain significance
- Immunodeficiency, common variable, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)