L15V (p.Leu15Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L15V (p.Leu15Val) 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 0.39 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- TOPMed rs1391613052
- gnomAD rs1391613052
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.54
- MetaSVM 0.02
- CADD 22.00
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available