Q99K (p.Gln99Lys) variant of TNFRSF13B (O14836)
Q99K (p.Gln99Lys) 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 0.54 / 1. The record also includes population frequency data and structural context.
Q99K (p.Gln99Lys) variant details
- p.Gln99Lys
- TOPMed rs2087568550
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.50
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available