C23R (p.Cys23Arg) variant of PIEZO2 (Q9H5I5)
C23R (p.Cys23Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- gnomAD rs1364166635
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.34
- MetaSVM -0.35
- CADD 27.00
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available