E6K (p.Glu6Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E6K (p.Glu6Lys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1191015788
- gnomAD rs1191015788
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.17
- MetaSVM -0.84
- CADD 23.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.026)
- Structural context available