P83S (p.Pro83Ser) variant of GYS2 (P54840)
P83S (p.Pro83Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P83S (p.Pro83Ser) variant details
- p.Pro83Ser
- gnomAD rs1345027888
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available