G12D (p.Gly12Asp) variant of ASIC1 (Acid-sensing ion channel 1)
G12D (p.Gly12Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- cosmic curated COSV57316
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.05
- CADD 20.70
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available