T49A (p.Thr49Ala) variant of REEP1 (Q9H902)
T49A (p.Thr49Ala) in REEP1 (Q9H902) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- TOPMed rs1433490355
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.66
- AlphaMissense 0.34
- MetaLR 0.88
- MetaSVM 0.99
- CADD 23.70
- PolyPhen-2 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available