L84P (p.Leu84Pro) variant of PIEZO2 (Q9H5I5)
L84P (p.Leu84Pro) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L84P (p.Leu84Pro) variant details
- p.Leu84Pro
- TOPMed rs1308170093
- gnomAD rs1308170093
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.37
- MetaSVM -0.27
- CADD 25.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available