K13* (p.Lys13Ter) variant of RP2 (Protein XRP2)
K13* (p.Lys13Ter) in RP2 (Protein XRP2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
K13* (p.Lys13Ter) variant details
- p.Lys13Ter
- rs1924521211
- ClinGen CA413038216
- ClinVar RCV001074570
- Ensembl rs1924521211
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available