T10P (p.Thr10Pro) variant of CDH2 (Cadherin-2)
T10P (p.Thr10Pro) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T10P (p.Thr10Pro) variant details
- p.Thr10Pro
- rs879030779
- ClinGen CA402245110
- ClinVar RCV002438031
- ClinVar RCV003102852
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.09
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.36
- 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 0.00022)
- 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)