T27K (p.Thr27Lys) variant of TNFRSF4 (P43489)
T27K (p.Thr27Lys) in TNFRSF4 (P43489) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- ExAC rs775900244
- TOPMed rs775900244
- gnomAD rs775900244
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available