p.His29 His30del variant of ASIC1 (Acid-sensing ion channel 1)
p.His29 His30del in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.His29 His30del variant details
- gnomAD 12-50073664-CCCAC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 12.30
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available