L72M (p.Leu72Met) variant of PIEZO2 (Q9H5I5)
L72M (p.Leu72Met) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L72M (p.Leu72Met) variant details
- p.Leu72Met
- gnomAD rs1421224897
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.35
- ESM-1b 0.49
- AlphaMissense 0.13
- MetaLR 0.34
- MetaSVM -0.60
- CADD 20.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available