Q53H (p.Gln53His) variant of PIEZO2 (Q9H5I5)
Q53H (p.Gln53His) 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.
Q53H (p.Gln53His) variant details
- p.Gln53His
- gnomAD 18-10666764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 0.87
- Population evidence available
- Structural context available
- Literature evidence available