V43M (p.Val43Met) variant of FAT1 (Protocadherin Fat 1)
V43M (p.Val43Met) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs560660262
- ClinGen CA3167718
- ClinVar RCV003097482
- 1000Genomes rs560660262
- Uncertain significance
- not provided
- Missense
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available