H99R (p.His99Arg) variant of CDH2 (Cadherin-2)
H99R (p.His99Arg) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. 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.
H99R (p.His99Arg) variant details
- p.His99Arg
- rs113785794
- ClinGen CA8923731
- ClinVar RCV002644086
- ClinVar RCV005537540
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 0.33)
- 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)