E64D (p.Glu64Asp) variant of FERMT1 (Fermitin family homolog 1)
E64D (p.Glu64Asp) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- ExAC rs749230193
- TOPMed rs749230193
- gnomAD rs749230193
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- CADD 19.50
- PolyPhen-2 0.95
- SIFT 0.25
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available