Q112R (p.Gln112Arg) variant of CDH2 (Cadherin-2)
Q112R (p.Gln112Arg) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q112R (p.Gln112Arg) variant details
- p.Gln112Arg
- rs368957587
- ClinGen CA8923725
- ClinVar RCV002321049
- ClinVar RCV005058296
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.00
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.22
- 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 7.2e-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)