S97T (p.Ser97Thr) variant of REEP1 (Q9H902)
S97T (p.Ser97Thr) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S97T (p.Ser97Thr) variant details
- p.Ser97Thr
- gnomAD rs1558891694
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.54
- AlphaMissense 0.16
- MetaLR 0.54
- MetaSVM -0.20
- CADD 22.60
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available