N64S (p.Asn64Ser) variant of CDH2 (Cadherin-2)
N64S (p.Asn64Ser) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- rs779271742
- ClinGen CA8923754
- ClinVar RCV002410661
- ClinVar RCV005097834
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.04
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)