N73S (p.Asn73Ser) variant of GYS2 (P54840)
N73S (p.Asn73Ser) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N73S (p.Asn73Ser) variant details
- p.Asn73Ser
- 1000Genomes rs554881012
- ExAC rs554881012
- gnomAD rs554881012
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.30
- PolyPhen-2 0.59
- SIFT 1.00
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available