E102K (p.Glu102Lys) variant of REEP1 (Q9H902)
E102K (p.Glu102Lys) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs2468827825
- ClinGen CA347716599
- ClinVar RCV003499253
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.59
- CADD 33.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)