L117P (p.Leu117Pro) variant of GYS2 (P54840)
L117P (p.Leu117Pro) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- Ensembl rs2136906420
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available