L13V (p.Leu13Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L13V (p.Leu13Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- ExAC rs762677988
- gnomAD rs762677988
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.41
- MetaSVM -0.38
- CADD 17.30
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available