L90F (p.Leu90Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L90F (p.Leu90Phe) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L90F (p.Leu90Phe) variant details
- p.Leu90Phe
- TOPMed rs1235608965
- gnomAD rs1235608965
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- ESM-1b 0.21
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.07
- CADD 17.30
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available