P65L (p.Pro65Leu) variant of FAT2 (Protocadherin Fat 2)
P65L (p.Pro65Leu) 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 provided. The record also includes variant effect predictions and population frequency data.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs779251901
- ClinGen CA3522476
- ClinVar RCV003688818
- ExAC rs779251901
- Uncertain significance
- not provided
- Missense
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available