Y65C (p.Tyr65Cys) variant of REEP1 (Q9H902)
Y65C (p.Tyr65Cys) 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; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Y65C (p.Tyr65Cys) variant details
- p.Tyr65Cys
- rs1553461508
- ClinGen CA347717642
- ClinVar RCV000554008
- ClinVar RCV001848943
- Uncertain significance
- Hereditary spastic paraplegia 31; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31; Hereditary spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)