V36I (p.Val36Ile) variant of REEP1 (Q9H902)
V36I (p.Val36Ile) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- ExAC rs765204754
- gnomAD rs765204754
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.59
- CADD 25.20
- PolyPhen-2 0.25
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available