p.Lys4 Ala5del variant of ASIC1 (Acid-sensing ion channel 1)
p.Lys4 Ala5del in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys4 Ala5del variant details
- gnomAD 12-50058775-GAAGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 20.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available