Q19P (p.Gln19Pro) variant of ASIC1 (Acid-sensing ion channel 1)
Q19P (p.Gln19Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q19P (p.Gln19Pro) variant details
- p.Gln19Pro
- rs997848433
- ClinGen CA236725479
- ClinVar RCV004296372
- gnomAD rs997848433
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.22
- MetaSVM -0.73
- CADD 22.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available