K90R (p.Lys90Arg) variant of REEP1 (Q9H902)
K90R (p.Lys90Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
K90R (p.Lys90Arg) variant details
- p.Lys90Arg
- rs1360820181
- ClinGen CA347717148
- ClinVar RCV002750786
- ClinVar RCV003427500
- Uncertain significance
- not provided; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.90
- MetaLR 0.83
- MetaSVM 0.73
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.26
- ClinVar: Uncertain significance (not provided; 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)