A22G (p.Ala22Gly) variant of ASIC1 (Acid-sensing ion channel 1)
A22G (p.Ala22Gly) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- gnomAD 12-50058831-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.34
- MetaSVM -0.23
- CADD 23.80
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available