p.Val10dup variant of ASIC1 (Acid-sensing ion channel 1)
p.Val10dup in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val10dup variant details
- gnomAD 12-50058792-A-AGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 19.60
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available
- Literature evidence available