A20V (p.Ala20Val) variant of ASIC1 (Acid-sensing ion channel 1)
A20V (p.Ala20Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 12-50058825-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.08
- MetaSVM -1.01
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available