P3L (p.Pro3Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P3L (p.Pro3Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) 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 0.24 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- TOPMed rs1009243195
- gnomAD rs1009243195
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.12
- MetaSVM -1.06
- CADD 14.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available