E162G (p.Glu162Gly) variant of FERMT1 (Fermitin family homolog 1)
E162G (p.Glu162Gly) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E162G (p.Glu162Gly) variant details
- p.Glu162Gly
- ExAC rs771920901
- gnomAD rs771920901
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available