K4M (p.Lys4Met) variant of ASIC1 (Acid-sensing ion channel 1)
K4M (p.Lys4Met) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K4M (p.Lys4Met) variant details
- p.Lys4Met
- gnomAD 12-50058777-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- ESM-1b 0.64
- AlphaMissense 0.27
- MetaLR 0.43
- MetaSVM -0.14
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available