K69E (p.Lys69Glu) variant of TNFRSF9 (Q07011)
K69E (p.Lys69Glu) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- rs2151420195
- ClinGen CA338160616
- ClinVar RCV001974409
- Ensembl rs2151420195
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.07
- MetaLR 0.32
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available