Q19K (p.Gln19Lys) variant of ASIC1 (Acid-sensing ion channel 1)
Q19K (p.Gln19Lys) 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.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- rs1475227482
- gnomAD 12-50073675-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 6.19
- SIFT 0.72
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available