P42L (p.Pro42Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P42L (p.Pro42Leu) 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 0.68 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- TOPMed rs981032101
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.62
- MetaSVM 0.29
- CADD 26.70
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available