P47H (p.Pro47His) variant of PIEZO2 (Q9H5I5)
P47H (p.Pro47His) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- gnomAD 18-10666675-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 0.54
- Population evidence available
- Structural context available
- Literature evidence available