A16V (p.Ala16Val) variant of FAT2 (Protocadherin Fat 2)
A16V (p.Ala16Val) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The record also includes variant effect predictions and population frequency data.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs200899973
- ClinGen CA3522500
- ClinVar RCV002933006
- ClinVar RCV004067052
- Conflicting interpretations
- not specified; not provided
- Missense
- REVEL 0.04
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available