T76N (p.Thr76Asn) variant of FERMT1 (Fermitin family homolog 1)
T76N (p.Thr76Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T76N (p.Thr76Asn) variant details
- p.Thr76Asn
- 1000Genomes rs202213120
- ExAC rs202213120
- TOPMed rs202213120
- gnomAD rs202213120
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.45
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available