H99Y (p.His99Tyr) variant of CDH2 (Cadherin-2)
H99Y (p.His99Tyr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H99Y (p.His99Tyr) variant details
- p.His99Tyr
- rs562222525
- ClinGen CA8923732
- ClinVar RCV003171565
- ExAC rs562222525
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.89
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.79
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)