L36H (p.Leu36His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L36H (p.Leu36His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) 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 0.85 / 1. The record also includes published literature and structural context.
L36H (p.Leu36His) variant details
- p.Leu36His
- rs1392963591
- ClinGen CA397128024
- ClinVar RCV004503555
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- ESM-1b 1.00
- AlphaMissense 0.72
- MutPred 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)