V116L (p.Val116Leu) variant of GYS2 (P54840)
V116L (p.Val116Leu) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V116L (p.Val116Leu) variant details
- p.Val116Leu
- ExAC rs758582300
- TOPMed rs758582300
- gnomAD rs758582300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available