E8E (p.Glu8Glu) variant of ASIC1 (Acid-sensing ion channel 1)
E8E (p.Glu8Glu) in ASIC1 (Acid-sensing ion channel 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs772074112
- gnomAD 12-50058790-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 9.84
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available