G76D (p.Gly76Asp) variant of TNFRSF13B (O14836)
G76D (p.Gly76Asp) 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; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- rs772701872
- ClinGen CA8414063
- ClinVar RCV000794862
- ClinVar RCV002536987
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.67
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)