S13del (p.Ser13del) variant of ASIC1 (Acid-sensing ion channel 1)
S13del (p.Ser13del) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S13del (p.Ser13del) variant details
- gnomAD 12-50073616-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 15.50
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available