P15H (p.Pro15His) variant of ASIC1 (Acid-sensing ion channel 1)
P15H (p.Pro15His) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P15H (p.Pro15His) variant details
- p.Pro15His
- rs973616694
- gnomAD 12-50073589-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 17.80
- SIFT 0.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available