L121M (p.Leu121Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L121M (p.Leu121Met) 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 0.38 / 1. The record also includes population frequency data and structural context.
L121M (p.Leu121Met) variant details
- p.Leu121Met
- gnomAD rs1259073810
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.33
- ESM-1b 0.04
- AlphaMissense 0.16
- MetaLR 0.36
- MetaSVM -0.48
- CADD 23.60
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available