V88I (p.Val88Ile) variant of GYS2 (P54840)
V88I (p.Val88Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V88I (p.Val88Ile) variant details
- p.Val88Ile
- TOPMed rs1050896862
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available