V119L (p.Val119Leu) variant of REEP1 (Q9H902)
V119L (p.Val119Leu) 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 0.40 / 1. The record also includes published literature and structural context.
V119L (p.Val119Leu) variant details
- p.Val119Leu
- rs1676309660
- ClinGen CA347716168
- ClinVar RCV001214308
- Ensembl rs1676309660
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.24
- MetaLR 0.43
- MetaSVM -0.41
- PolyPhen-2 0.00
- SIFT 0.69
- EVE 0.08
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)