R58Q (p.Arg58Gln) variant of PIEZO2 (Q9H5I5)
R58Q (p.Arg58Gln) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs879674484
- ClinGen CA296599940
- NCI-TCGA Cosmic COSV5743
- cosmic curated COSV57433
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.29
- MetaSVM -0.67
- CADD 25.70
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)