W46* (p.Trp46Ter) variant of ASIC1 (Acid-sensing ion channel 1)
W46* (p.Trp46Ter) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W46* (p.Trp46Ter) variant details
- p.Trp46Ter
- cosmic curated COSV10505
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 38.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available