S11P (p.Ser11Pro) variant of GYS2 (P54840)
S11P (p.Ser11Pro) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- TOPMed rs1179574081
- gnomAD rs1179574081
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available