E44K (p.Glu44Lys) variant of FAT2 (Protocadherin Fat 2)
E44K (p.Glu44Lys) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs1259896022
- NCI-TCGA Cosmic COSV5583
- gnomAD rs1259896022
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.81
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available