C7Y (p.Cys7Tyr) variant of PIEZO2 (Q9H5I5)
C7Y (p.Cys7Tyr) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- TOPMed rs1169177849
- gnomAD rs1169177849
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.83
- MetaLR 0.37
- MetaSVM -0.34
- CADD 27.60
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available