Y24* (p.Tyr24Ter) variant of REEP1 (Q9H902)
Y24* (p.Tyr24Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- rs2468983090
- ClinGen CA347722613
- ClinVar RCV003498280
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)