D85E (p.Asp85Glu) variant of FERMT1 (Fermitin family homolog 1)
D85E (p.Asp85Glu) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D85E (p.Asp85Glu) variant details
- p.Asp85Glu
- rs368160547
- ClinGen CA9758506
- ClinVar RCV002016376
- ESP rs368160547
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.29
- CADD 10.60
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available