P45L (p.Pro45Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P45L (p.Pro45Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- TOPMed rs918112054
- gnomAD rs918112054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.24
- MetaSVM -0.81
- CADD 15.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available