S97F (p.Ser97Phe) variant of REEP1 (Q9H902)
S97F (p.Ser97Phe) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S97F (p.Ser97Phe) variant details
- p.Ser97Phe
- gnomAD rs1185128659
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available