S45L (p.Ser45Leu) variant of PIEZO2 (Q9H5I5)
S45L (p.Ser45Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs932596927
- ClinGen CA296610247
- ClinVar RCV002678007
- TOPMed rs932596927
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.22
- MetaSVM -0.75
- CADD 26.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00017)
- 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)