L15P (p.Leu15Pro) variant of GYS2 (P54840)
L15P (p.Leu15Pro) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- gnomAD rs1944786295
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 24.80
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available