K20R (p.Lys20Arg) variant of FAT2 (Protocadherin Fat 2)
K20R (p.Lys20Arg) in FAT2 (Protocadherin Fat 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The record also includes variant effect predictions and population frequency data.
K20R (p.Lys20Arg) variant details
- p.Lys20Arg
- rs766681033
- ClinGen CA3522496
- ClinVar RCV003121821
- ExAC rs766681033
- Conflicting interpretations
- not provided
- Missense
- REVEL 0.11
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available