W125R (p.Trp125Arg) variant of GYS2 (P54840)
W125R (p.Trp125Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
W125R (p.Trp125Arg) variant details
- p.Trp125Arg
- Ensembl rs1944442292
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available