L15F (p.Leu15Phe) variant of GYS2 (P54840)
L15F (p.Leu15Phe) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- Ensembl rs200917760
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.17
- ESM-1b 0.23
- AlphaMissense 0.16
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available