H145R (p.His145Arg) variant of GYS2 (P54840)
H145R (p.His145Arg) 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.
H145R (p.His145Arg) variant details
- p.His145Arg
- TOPMed rs1389217410
- gnomAD rs1389217410
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 19.80
- PolyPhen-2 0.15
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available