Y65H (p.Tyr65His) variant of REEP1 (Q9H902)
Y65H (p.Tyr65His) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y65H (p.Tyr65His) variant details
- p.Tyr65His
- rs2104245077
- ClinGen CA347717652
- ClinVar RCV001847498
- Ensembl rs2104245077
- Uncertain significance
- Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)