V108I (p.Val108Ile) variant of REEP1 (Q9H902)
V108I (p.Val108Ile) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V108I (p.Val108Ile) variant details
- p.Val108Ile
- rs1474498257
- ClinGen CA347716453
- cosmic curated COSV51258
- ClinVar RCV000641686
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)