K64* (p.Lys64Ter) variant of CD3E (P07766)
K64* (p.Lys64Ter) in CD3E (P07766) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
K64* (p.Lys64Ter) variant details
- p.Lys64Ter
- rs1948142385
- ClinGen CA382782086
- ClinVar RCV003583322
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -0.97
- PolyPhen-2 0.01
- SIFT 0.43
- EVE 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available