L5V (p.Leu5Val) variant of FAT2 (Protocadherin Fat 2)
L5V (p.Leu5Val) 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 specified; not provided. The record also includes variant effect predictions and population frequency data.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1488441223
- ClinGen CA361819006
- ClinVar RCV003427718
- ClinVar RCV004289495
- Conflicting interpretations
- not specified; not provided
- Missense
- REVEL 0.07
- CADD 2.63
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available