P19L (p.Pro19Leu) variant of REEP1 (Q9H902)
P19L (p.Pro19Leu) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1060503496
- ClinGen CA347722702
- ClinVar RCV001391633
- UniProt VAR 067265
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 31)
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available
- Cited in: REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial… (PMID 21618648)
- Cited in: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. (PMID 24478229)