L32M (p.Leu32Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L32M (p.Leu32Met) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- rs370663645
- ClinGen CA8233431
- ClinVar RCV000897670
- ClinVar RCV003920857
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.32
- MetaSVM -0.48
- CADD 23.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)