A110E (p.Ala110Glu) variant of REEP1 (Q9H902)
A110E (p.Ala110Glu) 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 0.81 / 1. The record also includes structural context.
A110E (p.Ala110Glu) variant details
- p.Ala110Glu
- rs1182977563
- ClinGen CA347716398
- ClinVar RCV001253597
- gnomAD rs1182977563
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available