A21E (p.Ala21Glu) variant of CDH2 (Cadherin-2)
A21E (p.Ala21Glu) in CDH2 (Cadherin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- ExAC rs751608409
- TOPMed rs751608409
- gnomAD rs751608409
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -1.02
- CADD 18.90
- PolyPhen-2 0.20
- SIFT 0.27
- EBI: Variant of uncertain significance (in dbSNP:rs17495042)
- UniProt: Uncertain significance (in dbSNP:rs17495042)
- Population evidence available
- Structural context available