C60Y (p.Cys60Tyr) variant of REEP1 (Q9H902)
C60Y (p.Cys60Tyr) 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 0.56 / 1. The record also includes published literature and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- rs2104302794
- ClinGen CA347719895
- ClinVar RCV001880480
- Ensembl rs2104302794
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.63
- MetaLR 0.70
- MetaSVM 0.47
- PolyPhen-2 0.18
- SIFT 0.10
- EVE 0.08
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)