A68V (p.Ala68Val) variant of FAT2 (Protocadherin Fat 2)
A68V (p.Ala68Val) 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.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs150175247
- ClinGen CA3522475
- ClinVar RCV002903893
- ClinVar RCV004066140
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.06
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available