L36P (p.Leu36Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L36P (p.Leu36Pro) 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 0.62 / 1. The record also includes population frequency data and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- TOPMed rs1392963591
- gnomAD rs1392963591
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.46
- MetaSVM -0.08
- CADD 28.30
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available