R147Q (p.Arg147Gln) variant of GYS2 (P54840)
R147Q (p.Arg147Gln) in GYS2 (P54840) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R147Q (p.Arg147Gln) variant details
- p.Arg147Gln
- rs760649869
- NCI-TCGA Cosmic COSV5392
- ExAC rs760649869
- TOPMed rs760649869
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.62
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available