Q29E (p.Gln29Glu) variant of FAT1 (Protocadherin Fat 1)
Q29E (p.Gln29Glu) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar 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.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- ESP rs372397939
- ExAC rs372397939
- TOPMed rs372397939
- gnomAD rs372397939
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.17
- CADD 6.75
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available