P48L (p.Pro48Leu) variant of FAT2 (Protocadherin Fat 2)
P48L (p.Pro48Leu) 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs1758403542
- ClinGen CA361817925
- ClinVar RCV003854436
- Ensembl rs1758403542
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.34
- MetaLR 0.49
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance