R38Q (p.Arg38Gln) variant of ASIC1 (Acid-sensing ion channel 1)
R38Q (p.Arg38Gln) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- ExAC rs780207910
- TOPMed rs780207910
- gnomAD rs780207910
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.23
- ESM-1b 0.64
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.76
- CADD 22.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available