H74L (p.His74Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H74L (p.His74Leu) 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 0.55 / 1. The record also includes population frequency data and structural context.
H74L (p.His74Leu) variant details
- p.His74Leu
- gnomAD rs1276456322
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.40
- MetaSVM -0.26
- CADD 24.40
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available