P113L (p.Pro113Leu) variant of GYS2 (P54840)
P113L (p.Pro113Leu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P113L (p.Pro113Leu) variant details
- p.Pro113Leu
- Ensembl rs1565605986
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available