A5V (p.Ala5Val) variant of CDH2 (Cadherin-2)
A5V (p.Ala5Val) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia, familial, 14; not provided; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs1284853215
- ClinGen CA402245134
- ClinVar RCV002227796
- ClinVar RCV002391374
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia, familial, 14; not provided; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia, familial, 14; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)