D133N (p.Asp133Asn) variant of GYS2 (P54840)
D133N (p.Asp133Asn) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D133N (p.Asp133Asn) variant details
- p.Asp133Asn
- ExAC rs774186653
- TOPMed rs774186653
- gnomAD rs774186653
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 23.90
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available