V2M (p.Val2Met) variant of REEP1 (Q9H902)
V2M (p.Val2Met) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- rs898778508
- ClinGen CA51490176
- ClinVar RCV001929618
- TOPMed rs898778508
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 21.30
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)