L2I (p.Leu2Ile) variant of GYS2 (P54840)
L2I (p.Leu2Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L2I (p.Leu2Ile) variant details
- p.Leu2Ile
- gnomAD rs1223813221
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.70
- PolyPhen-2 0.05
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available