Y79C (p.Tyr79Cys) variant of TNFRSF13B (O14836)
Y79C (p.Tyr79Cys) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- rs72553876
- ClinGen CA8414061
- ClinVar RCV000327211
- ClinVar RCV000648139
- Conflicting interpretations
- not specified; not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.84
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Immunodeficiency, common variable,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)