I142F (p.Ile142Phe) variant of GYS2 (P54840)
I142F (p.Ile142Phe) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I142F (p.Ile142Phe) variant details
- p.Ile142Phe
- TOPMed rs1944440958
- gnomAD rs1944440958
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available