H88L (p.His88Leu) variant of PIEZO2 (Q9H5I5)
H88L (p.His88Leu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
H88L (p.His88Leu) variant details
- p.His88Leu
- TOPMed rs2034586210
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.15
- MetaSVM -0.98
- CADD 21.50
- Structural context available