V72L (p.Val72Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V72L (p.Val72Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- gnomAD rs1441814815
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -1.00
- CADD 4.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available