A44E (p.Ala44Glu) variant of ASIC1 (Acid-sensing ion channel 1)
A44E (p.Ala44Glu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A44E (p.Ala44Glu) variant details
- p.Ala44Glu
- gnomAD 12-50058897-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.25
- MetaSVM -0.69
- CADD 21.80
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available
- Literature evidence available