Y36D (p.Tyr36Asp) variant of ASIC1 (Acid-sensing ion channel 1)
Y36D (p.Tyr36Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Y36D (p.Tyr36Asp) variant details
- p.Tyr36Asp
- gnomAD 12-50058872-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.30
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available