L30V (p.Leu30Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L30V (p.Leu30Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- TOPMed rs1906268661
- gnomAD rs1906268661
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.56
- MetaSVM 0.15
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available