R129K (p.Arg129Lys) variant of GYS2 (P54840)
R129K (p.Arg129Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R129K (p.Arg129Lys) variant details
- p.Arg129Lys
- Ensembl rs1565605946
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available