V23A (p.Val23Ala) variant of CDH2 (Cadherin-2)
V23A (p.Val23Ala) 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 0.30 / 1. The record also includes published literature and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- rs201041020
- ClinGen CA297933416
- ClinVar RCV002675941
- ClinVar RCV005535386
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.05
- MetaLR 0.07
- MetaSVM -1.10
- PolyPhen-2 0.00
- SIFT 0.43
- MutPred 0.54
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)