H50R (p.His50Arg) variant of CDH2 (Cadherin-2)
H50R (p.His50Arg) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H50R (p.His50Arg) variant details
- p.His50Arg
- rs1026380265
- ClinGen CA297933412
- ClinVar RCV002389863
- ClinVar RCV006470056
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.06
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)