S11F (p.Ser11Phe) variant of GYS2 (P54840)
S11F (p.Ser11Phe) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- gnomAD rs1401317610
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.68
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available