H55Q (p.His55Gln) variant of PIEZO2 (Q9H5I5)
H55Q (p.His55Gln) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- gnomAD 18-10666740-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 0.65
- Population evidence available
- Structural context available
- Literature evidence available