G12V (p.Gly12Val) variant of ASIC1 (Acid-sensing ion channel 1)
G12V (p.Gly12Val) 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.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- 1000Genomes rs562333224
- ExAC rs562333224
- TOPMed rs562333224
- gnomAD rs562333224
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.02
- CADD 21.30
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available