R43W (p.Arg43Trp) variant of ASIC1 (Acid-sensing ion channel 1)
R43W (p.Arg43Trp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- ExAC rs749528528
- TOPMed rs749528528
- gnomAD rs749528528
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.59
- MetaSVM 0.36
- CADD 28.50
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available