I33V (p.Ile33Val) variant of ASIC1 (Acid-sensing ion channel 1)
I33V (p.Ile33Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- ESP rs371256324
- ExAC rs371256324
- gnomAD rs371256324
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- ESM-1b 0.38
- AlphaMissense 0.10
- MetaLR 0.22
- MetaSVM -0.81
- CADD 19.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available