R3Q (p.Arg3Gln) variant of GYS2 (P54840)
R3Q (p.Arg3Gln) 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 0.37 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs750090305
- NCI-TCGA Cosmic COSV5392
- ExAC rs750090305
- gnomAD rs750090305
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- ESM-1b 0.76
- AlphaMissense 0.10
- CADD 19.10
- PolyPhen-2 0.44
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available