L40I (p.Leu40Ile) variant of PIEZO2 (Q9H5I5)
L40I (p.Leu40Ile) 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.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- gnomAD 18-10666751-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 0.55
- Population evidence available
- Structural context available
- Literature evidence available