D113H (p.Asp113His) variant of FAT2 (Protocadherin Fat 2)
D113H (p.Asp113His) 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.
D113H (p.Asp113His) variant details
- p.Asp113His
- TOPMed rs1011979822
- gnomAD rs1011979822
- Uncertain significance
- not specified
- Missense
- REVEL 0.45
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available