A87S (p.Ala87Ser) variant of GYS2 (P54840)
A87S (p.Ala87Ser) 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.
A87S (p.Ala87Ser) variant details
- p.Ala87Ser
- gnomAD rs1409635734
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.50
- PolyPhen-2 0.23
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available