A21V (p.Ala21Val) variant of CDH2 (Cadherin-2)
A21V (p.Ala21Val) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs751608409
- ClinGen CA8923843
- ClinVar RCV002368778
- ClinVar RCV006470916
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs17495042)
- UniProt: Uncertain significance (in dbSNP:rs17495042)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)