R113* (p.Arg113Ter) variant of REEP1 (Q9H902)
R113* (p.Arg113Ter) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R113* (p.Arg113Ter) variant details
- p.Arg113Ter
- rs121918263
- ClinGen CA115251
- cosmic curated COSV51256
- ClinVar RCV000001940
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (PMID 19034539)
- Cited in: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (PMID 22703882)