R49G (p.Arg49Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R49G (p.Arg49Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- TOPMed rs1166469802
- gnomAD rs1166469802
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.96
- CADD 7.59
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available