E45del (p.Glu45del) variant of ASIC1 (Acid-sensing ion channel 1)
E45del (p.Glu45del) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E45del (p.Glu45del) variant details
- rs1294914654
- gnomAD 12-50073710-GGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 14.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available