P16L (p.Pro16Leu) variant of GYS2 (P54840)
P16L (p.Pro16Leu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD rs1944786206
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 22.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available