I48V (p.Ile48Val) variant of GYS2 (P54840)
I48V (p.Ile48Val) 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.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- TOPMed rs199980772
- gnomAD rs199980772
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available