I44V (p.Ile44Val) variant of GYS2 (P54840)
I44V (p.Ile44Val) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- Ensembl rs2136913531
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 24.70
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.14)
- Structural context available