G90D (p.Gly90Asp) variant of FAT2 (Protocadherin Fat 2)
G90D (p.Gly90Asp) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spinocerebellar ataxia 45; not provided; not specified. The record also includes variant effect predictions and population frequency data.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- rs145029623
- ClinGen CA3522468
- ClinVar RCV002904212
- ClinVar RCV003943554
- Conflicting interpretations
- Spinocerebellar ataxia 45; not provided; not specified
- Missense
- REVEL 0.72
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Spinocerebellar ataxia 45; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available