R26Q (p.Arg26Gln) variant of PIEZO2 (Q9H5I5)
R26Q (p.Arg26Gln) in PIEZO2 (Q9H5I5) 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 0.75 / 1. The record also includes population frequency data and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs1338267898
- TOPMed rs1338267898
- gnomAD rs1338267898
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.78
- ESM-1b 0.38
- AlphaMissense 0.87
- MetaLR 0.66
- MetaSVM 0.38
- CADD 32.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available