H28N (p.His28Asn) variant of ASIC1 (Acid-sensing ion channel 1)
H28N (p.His28Asn) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H28N (p.His28Asn) variant details
- p.His28Asn
- gnomAD 12-50073666-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 9.35
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available