A20P (p.Ala20Pro) variant of REEP1 (Q9H902)
A20P (p.Ala20Pro) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs1266102026
- ClinGen CA347722695
- ClinVar RCV000516005
- gnomAD rs1266102026
- Likely pathogenic
- Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia)
- EBI: Likely pathogenic (in SPG31)
- UniProt: Likely pathogenic (in SPG31)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)