H55Y (p.His55Tyr) variant of PIEZO2 (Q9H5I5)
H55Y (p.His55Tyr) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H55Y (p.His55Tyr) variant details
- p.His55Tyr
- rs2143328857
- gnomAD 18-10666742-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 2.02
- Population evidence available
- Structural context available
- Literature evidence available