R72Q (p.Arg72Gln) variant of FAT2 (Protocadherin Fat 2)
R72Q (p.Arg72Gln) 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; not provided. The record also includes variant effect predictions and population frequency data.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- rs371264512
- ClinGen CA3522471
- ClinVar RCV003777530
- ClinVar RCV004345452
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available