N39D (p.Asn39Asp) variant of GYS2 (P54840)
N39D (p.Asn39Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- ExAC rs765703616
- gnomAD rs765703616
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 26.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available