V25A (p.Val25Ala) variant of GYS2 (P54840)
V25A (p.Val25Ala) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- TOPMed rs1418654756
- gnomAD rs1418654756
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available