L59I (p.Leu59Ile) variant of PIEZO2 (Q9H5I5)
L59I (p.Leu59Ile) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L59I (p.Leu59Ile) variant details
- p.Leu59Ile
- rs1278053718
- gnomAD 18-10666703-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 4.02
- Population evidence available
- Structural context available
- Literature evidence available