N96H (p.Asn96His) variant of GYS2 (P54840)
N96H (p.Asn96His) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N96H (p.Asn96His) variant details
- p.Asn96His
- Ensembl rs1944494873
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available