A22D (p.Ala22Asp) variant of ASIC1 (Acid-sensing ion channel 1)
A22D (p.Ala22Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- gnomAD 12-50058831-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.31
- CADD 26.60
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available