F6del (p.Phe6del) variant of ASIC1 (Acid-sensing ion channel 1)
F6del (p.Phe6del) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F6del (p.Phe6del) variant details
- gnomAD 12-50073597-ATCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 16.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available