I13M (p.Ile13Met) variant of REEP1 (Q9H902)
I13M (p.Ile13Met) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- ExAC rs773346096
- TOPMed rs773346096
- gnomAD rs773346096
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.75
- CADD 22.70
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available