G11S (p.Gly11Ser) variant of ASIC1 (Acid-sensing ion channel 1)
G11S (p.Gly11Ser) 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.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD 12-50058797-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.95
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available