R70K (p.Arg70Lys) variant of FAT2 (Protocadherin Fat 2)
R70K (p.Arg70Lys) 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.
R70K (p.Arg70Lys) variant details
- p.Arg70Lys
- rs1199210774
- NCI-TCGA Cosmic COSV5582
- gnomAD rs1199210774
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.11
- CADD 9.63
- PolyPhen-2 0.00
- SIFT 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available