S83R (p.Ser83Arg) variant of PIEZO2 (Q9H5I5)
S83R (p.Ser83Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S83R (p.Ser83Arg) variant details
- p.Ser83Arg
- TOPMed rs1473578503
- gnomAD rs1473578503
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.27
- MetaSVM -0.80
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available