C66S (p.Cys66Ser) variant of TNFRSF13B (O14836)
C66S (p.Cys66Ser) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C66S (p.Cys66Ser) variant details
- p.Cys66Ser
- ExAC rs751382736
- TOPMed rs751382736
- gnomAD rs751382736
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.78
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available