S98L (p.Ser98Leu) variant of REEP1 (Q9H902)
S98L (p.Ser98Leu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S98L (p.Ser98Leu) variant details
- p.Ser98Leu
- rs766247706
- ClinGen CA1748788
- ClinVar RCV001294796
- ExAC rs766247706
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)