R58L (p.Arg58Leu) variant of PIEZO2 (Q9H5I5)
R58L (p.Arg58Leu) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R58L (p.Arg58Leu) variant details
- p.Arg58Leu
- TOPMed rs879674484
- gnomAD rs879674484
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.32
- MetaSVM -0.49
- CADD 24.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available