R3Q (p.Arg3Gln) variant of CDH2 (Cadherin-2)
R3Q (p.Arg3Gln) in CDH2 (Cadherin-2) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs1323181717
- ClinGen CA402245147
- ClinVar RCV002016860
- ClinVar RCV002372805
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -0.95
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)