A20E (p.Ala20Glu) variant of REEP1 (Q9H902)
A20E (p.Ala20Glu) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- rs121918262
- ClinGen CA115247
- ClinVar RCV000001939
- ClinVar RCV000713454
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. (PMID 26201691)
- Cited in: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (PMID 22703882)