R43Q (p.Arg43Gln) variant of ASIC1 (Acid-sensing ion channel 1)
R43Q (p.Arg43Gln) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57318
- TOPMed rs1950472946
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.27
- MetaSVM -0.53
- CADD 23.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available