L110V (p.Leu110Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L110V (p.Leu110Val) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L110V (p.Leu110Val) variant details
- p.Leu110Val
- rs1056798384
- ClinGen CA286441392
- ClinVar RCV002724255
- ClinVar RCV003135229
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.39
- MetaSVM -0.46
- CADD 21.90
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)