R58W (p.Arg58Trp) variant of PIEZO2 (Q9H5I5)
R58W (p.Arg58Trp) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; PIEZO2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- rs142351929
- ClinGen CA8892873
- cosmic curated COSV10012
- ClinVar RCV002579236
- Conflicting interpretations
- Inborn genetic diseases; not provided; PIEZO2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.32
- MetaSVM -0.31
- CADD 27.20
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; PIEZO2-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- 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)