R109G (p.Arg109Gly) variant of FAT2 (Protocadherin Fat 2)
R109G (p.Arg109Gly) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
R109G (p.Arg109Gly) variant details
- p.Arg109Gly
- ExAC rs747116146
- TOPMed rs747116146
- gnomAD rs747116146
- Uncertain significance
- not specified
- Missense
- REVEL 0.64
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available