A5T (p.Ala5Thr) variant of ASIC1 (Acid-sensing ion channel 1)
A5T (p.Ala5Thr) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 12-50058779-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.93
- CADD 21.70
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available