L38F (p.Leu38Phe) variant of PIEZO2 (Q9H5I5)
L38F (p.Leu38Phe) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- TOPMed rs1731615596
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- ESM-1b 0.08
- AlphaMissense 0.66
- MetaLR 0.41
- MetaSVM -0.33
- CADD 27.90
- Structural context available