H4L (p.His4Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H4L (p.His4Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- 1000Genomes rs1226032010
- TOPMed rs1226032010
- gnomAD rs1226032010
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.25
- MetaSVM -0.63
- CADD 21.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available