L59V (p.Leu59Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L59V (p.Leu59Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
L59V (p.Leu59Val) variant details
- p.Leu59Val
- gnomAD rs1330138523
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.13
- MetaSVM -1.03
- CADD 23.10
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available