E37A (p.Glu37Ala) variant of ASIC1 (Acid-sensing ion channel 1)
E37A (p.Glu37Ala) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E37A (p.Glu37Ala) variant details
- p.Glu37Ala
- gnomAD 12-50058874-CGA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 28.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available