V53L (p.Val53Leu) variant of PHF6 (PHD finger protein 6)
V53L (p.Val53Leu) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Borjeson-Forssman-Lehmann syndrome. The record also includes structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- rs2520470391
- ClinGen CA414710954
- ClinVar RCV002304902
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available