T42N (p.Thr42Asn) variant of FAT1 (Protocadherin Fat 1)
T42N (p.Thr42Asn) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
T42N (p.Thr42Asn) variant details
- p.Thr42Asn
- ESP rs377614281
- ExAC rs377614281
- TOPMed rs377614281
- gnomAD rs377614281
- Uncertain significance
- Inborn genetic diseases
- Missense
- CADD 17.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available