G11D (p.Gly11Asp) variant of ASIC1 (Acid-sensing ion channel 1)
G11D (p.Gly11Asp) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- TOPMed rs1450857095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 20.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available