L17I (p.Leu17Ile) variant of REEP1 (Q9H902)
L17I (p.Leu17Ile) 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 0.74 / 1. The record also includes population frequency data and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- rs1553465460
- ClinGen CA347722733
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99382
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.72
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available