S114N (p.Ser114Asn) variant of REEP1 (Q9H902)
S114N (p.Ser114Asn) 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 0.71 / 1. The record also includes structural context.
S114N (p.Ser114Asn) variant details
- p.Ser114Asn
- rs1676311757
- ClinGen CA347716290
- ClinVar RCV001043828
- Ensembl rs1676311757
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 0.83
- SIFT 0.05
- EVE 0.55
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available