A5A (p.Ala5Ala) variant of ASIC1 (Acid-sensing ion channel 1)
A5A (p.Ala5Ala) in ASIC1 (Acid-sensing ion channel 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs773285015
- gnomAD 12-50058781-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.96
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available