G64S (p.Gly64Ser) variant of TNFRSF13C (Q96RJ3)
G64S (p.Gly64Ser) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
G64S (p.Gly64Ser) variant details
- p.Gly64Ser
- rs1439217837
- ClinGen CA411763311
- ClinVar RCV001063510
- gnomAD rs1439217837
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance (in dbSNP:rs547352394)
- UniProt: Uncertain significance (in dbSNP:rs547352394)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)