I33N (p.Ile33Asn) variant of ASIC1 (Acid-sensing ion channel 1)
I33N (p.Ile33Asn) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I33N (p.Ile33Asn) variant details
- p.Ile33Asn
- gnomAD 12-50073691-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 0.14
- SIFT 0.65
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available