E64K (p.Glu64Lys) variant of FAT2 (Protocadherin Fat 2)
E64K (p.Glu64Lys) 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. The record also includes variant effect predictions.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- rs2127650688
- ClinGen CA361817693
- ClinVar RCV004386004
- Uncertain significance
- not specified
- Missense
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance