G40E (p.Gly40Glu) variant of FERMT1 (Fermitin family homolog 1)
G40E (p.Gly40Glu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- TOPMed rs1213603254
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.64
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available