W125C (p.Trp125Cys) variant of GYS2 (P54840)
W125C (p.Trp125Cys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
W125C (p.Trp125Cys) variant details
- p.Trp125Cys
- ExAC rs766324299
- TOPMed rs766324299
- gnomAD rs766324299
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available