L134I (p.Leu134Ile) variant of GYS2 (P54840)
L134I (p.Leu134Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L134I (p.Leu134Ile) variant details
- p.Leu134Ile
- ExAC rs746184836
- gnomAD rs746184836
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 21.60
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available