Y34C (p.Tyr34Cys) variant of PIEZO2 (Q9H5I5)
Y34C (p.Tyr34Cys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- gnomAD rs1419799672
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.75
- MetaSVM 0.62
- CADD 24.60
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available