H98R (p.His98Arg) variant of GYS2 (P54840)
H98R (p.His98Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H98R (p.His98Arg) variant details
- p.His98Arg
- TOPMed rs1479342425
- gnomAD rs1479342425
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available