G64V (p.Gly64Val) variant of TNFRSF13C (Q96RJ3)
G64V (p.Gly64Val) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- rs1556157858
- ClinGen CA658658924
- ClinVar RCV000538153
- Ensembl rs1556157858
- Benign/Likely benign
- not specified; Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; Immunodeficiency, common variable, 4)
- EBI: Benign (in dbSNP:rs547352394)
- UniProt: Benign (in dbSNP:rs547352394)
- Most common in the East Asian population (allele frequency 0.00015)
- Cited in: Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. (PMID 16160919)