T10I (p.Thr10Ile) variant of CDH2 (Cadherin-2)
T10I (p.Thr10Ile) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. 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.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs773400550
- ClinGen CA402245108
- ClinVar RCV002435606
- ClinVar RCV003102961
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-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)