D116E (p.Asp116Glu) variant of REEP1 (Q9H902)
D116E (p.Asp116Glu) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D116E (p.Asp116Glu) variant details
- p.Asp116Glu
- ESP rs377426129
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.33
- CADD 7.73
- PolyPhen-2 0.55
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available