E48G (p.Glu48Gly) variant of FERMT1 (Fermitin family homolog 1)
E48G (p.Glu48Gly) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- TOPMed rs1157852326
- gnomAD rs1157852326
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- CADD 24.90
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available