T27R (p.Thr27Arg) variant of TNFRSF13B (O14836)
T27R (p.Thr27Arg) 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 0.15 / 1. The record also includes population frequency data.
T27R (p.Thr27Arg) variant details
- p.Thr27Arg
- ExAC rs770108193
- gnomAD rs770108193
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.21
- CADD 1.26
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)