D78N (p.Asp78Asn) variant of CDH2 (Cadherin-2)
D78N (p.Asp78Asn) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- ExAC rs763887861
- TOPMed rs763887861
- gnomAD rs763887861
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.60
- PolyPhen-2 0.74
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available