N85S (p.Asn85Ser) variant of GYS2 (P54840)
N85S (p.Asn85Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N85S (p.Asn85Ser) variant details
- p.Asn85Ser
- gnomAD rs1318026904
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available