L9V (p.Leu9Val) variant of PIEZO2 (Q9H5I5)
L9V (p.Leu9Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- TOPMed rs1301146784
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.21
- MetaSVM -0.82
- CADD 27.20
- Structural context available