N62Y (p.Asn62Tyr) variant of GYS2 (P54840)
N62Y (p.Asn62Tyr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N62Y (p.Asn62Tyr) variant details
- p.Asn62Tyr
- Ensembl rs1565607596
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available