K42G (p.Lys42Gly) variant of ASIC1 (Acid-sensing ion channel 1)
K42G (p.Lys42Gly) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K42G (p.Lys42Gly) variant details
- p.Lys42Gly
- rs1393449931
- gnomAD 12-50073732-GCAGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 8.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available