K101* (p.Lys101Ter) variant of REEP1 (Q9H902)
K101* (p.Lys101Ter) in REEP1 (Q9H902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K101* (p.Lys101Ter) variant details
- p.Lys101Ter
- rs2104243903
- ClinGen CA347716917
- ClinVar RCV001730194
- Ensembl rs2104243903
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available