R38W (p.Arg38Trp) variant of ASIC1 (Acid-sensing ion channel 1)
R38W (p.Arg38Trp) 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 0.56 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.38
- MetaSVM -0.29
- CADD 26.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available