D119N (p.Asp119Asn) variant of GYS2 (P54840)
D119N (p.Asp119Asn) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D119N (p.Asp119Asn) variant details
- p.Asp119Asn
- ExAC rs759292321
- gnomAD rs759292321
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available