A6T (p.Ala6Thr) variant of GCK (Hexokinase-4)
A6T (p.Ala6Thr) in GCK (Hexokinase-4) 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 0.42 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs754792276
- ClinGen CA4239799
- ClinVar RCV001769217
- ExAC rs754792276
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available