Y35N (p.Tyr35Asn) variant of REEP1 (Q9H902)
Y35N (p.Tyr35Asn) 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 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
Y35N (p.Tyr35Asn) variant details
- p.Tyr35Asn
- rs1574077431
- ClinGen CA347722437
- ClinVar RCV000790185
- ClinVar RCV001352073
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)