Q49E (p.Gln49Glu) variant of FERMT1 (Fermitin family homolog 1)
Q49E (p.Gln49Glu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- TOPMed rs929847047
- gnomAD rs929847047
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.09
- CADD 1.65
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available