N127D (p.Asn127Asp) variant of REEP1 (Q9H902)
N127D (p.Asn127Asp) 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 0.48 / 1. The record also includes structural context.
N127D (p.Asn127Asp) variant details
- p.Asn127Asp
- rs1676306574
- ClinGen CA347715989
- ClinVar RCV001139904
- Ensembl rs1676306574
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.76
- MetaLR 0.65
- MetaSVM 0.06
- PolyPhen-2 0.02
- SIFT 0.00
- EVE 0.14
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available