Y115* (p.Tyr115Ter) variant of REEP1 (Q9H902)
Y115* (p.Tyr115Ter) in REEP1 (Q9H902) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y115* (p.Tyr115Ter) variant details
- p.Tyr115Ter
- rs138656911
- ClinGen CA347716240
- ClinVar RCV001047463
- ClinVar RCV004720051
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)