D151N (p.Asp151Asn) variant of GYS2 (P54840)
D151N (p.Asp151Asn) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D151N (p.Asp151Asn) variant details
- p.Asp151Asn
- ExAC rs767023189
- TOPMed rs767023189
- gnomAD rs767023189
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available