L12P (p.Leu12Pro) variant of GYS2 (P54840)
L12P (p.Leu12Pro) 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.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- ExAC rs747176029
- gnomAD rs747176029
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available