H96L (p.His96Leu) variant of EYA1 (Protein phosphatase EYA1)
H96L (p.His96Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H96L (p.His96Leu) variant details
- p.His96Leu
- ESP rs377434964
- ExAC rs377434964
- gnomAD rs377434964
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available