A74S (p.Ala74Ser) variant of REEP1 (Q9H902)
A74S (p.Ala74Ser) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- rs1214003244
- ClinGen CA347717468
- ClinVar RCV003600602
- TOPMed rs1214003244
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.52
- CADD 24.90
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)