H35Q (p.His35Gln) variant of FAT2 (Protocadherin Fat 2)
H35Q (p.His35Gln) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
H35Q (p.His35Gln) variant details
- p.His35Gln
- TOPMed rs1278802569
- gnomAD rs1278802569
- Uncertain significance
- not specified
- Missense
- REVEL 0.07
- CADD 5.88
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available