H28D (p.His28Asp) variant of ASIC1 (Acid-sensing ion channel 1)
H28D (p.His28Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H28D (p.His28Asp) variant details
- p.His28Asp
- rs1009423847
- gnomAD 12-50073669-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 8.90
- SIFT 0.49
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available