Y34N (p.Tyr34Asn) variant of PIEZO2 (Q9H5I5)
Y34N (p.Tyr34Asn) 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.
Y34N (p.Tyr34Asn) variant details
- p.Tyr34Asn
- gnomAD rs1411376101
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.75
- MetaSVM 0.62
- CADD 26.80
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available