N62K (p.Asn62Lys) variant of GYS2 (P54840)
N62K (p.Asn62Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- TOPMed rs1290083695
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 18.10
- PolyPhen-2 0.71
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available