L2F (p.Leu2Phe) variant of GYS2 (P54840)
L2F (p.Leu2Phe) in GYS2 (P54840) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- gnomAD rs1223813221
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available