G141R (p.Gly141Arg) variant of GYS2 (P54840)
G141R (p.Gly141Arg) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G141R (p.Gly141Arg) variant details
- p.Gly141Arg
- 1000Genomes rs149533049
- ESP rs149533049
- ExAC rs149533049
- TOPMed rs149533049
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available