E60K (p.Glu60Lys) variant of GNAT1 (P11488)
E60K (p.Glu60Lys) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- TOPMed rs1242103172
- gnomAD rs1242103172
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.45
- CADD 25.80
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available