A20T (p.Ala20Thr) variant of REEP1 (Q9H902)
A20T (p.Ala20Thr) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary spastic paraplegia; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1266102026
- ClinGen CA347722697
- ClinVar RCV001847504
- ClinVar RCV003332349
- Conflicting interpretations
- not provided; Hereditary spastic paraplegia; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spastic paraplegia; Hereditary spastic)
- EBI: Likely pathogenic (in SPG31)
- UniProt: Likely pathogenic (in SPG31)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)