V33L (p.Val33Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V33L (p.Val33Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- ExAC rs770998224
- TOPMed rs770998224
- gnomAD rs770998224
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.26
- MetaSVM -0.60
- CADD 22.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available