A63V (p.Ala63Val) variant of FAT2 (Protocadherin Fat 2)
A63V (p.Ala63Val) 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.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs192641187
- ClinGen CA3522478
- ClinVar RCV003697608
- ClinVar RCV005335856
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.11
- CADD 4.95
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available