L10P (p.Leu10Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L10P (p.Leu10Pro) 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 0.52 / 1. The record also includes population frequency data and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- Ensembl rs1471690434
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.59
- ESM-1b 0.44
- AlphaMissense 0.30
- MetaLR 0.44
- MetaSVM -0.20
- CADD 23.60
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available