L8V (p.Leu8Val) variant of CDH2 (Cadherin-2)
L8V (p.Leu8Val) in CDH2 (Cadherin-2) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- rs1369360558
- ClinGen CA402245120
- ClinVar RCV002446301
- TOPMed rs1369360558
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.07
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- 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)