R49L (p.Arg49Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R49L (p.Arg49Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- 1000Genomes rs779186692
- ExAC rs779186692
- TOPMed rs779186692
- gnomAD rs779186692
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -1.01
- CADD 8.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available