D39V (p.Asp39Val) variant of CDH2 (Cadherin-2)
D39V (p.Asp39Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
D39V (p.Asp39Val) variant details
- p.Asp39Val
- ExAC rs769118218
- TOPMed rs769118218
- gnomAD rs769118218
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- MetaLR 0.23
- MetaSVM -0.67
- CADD 26.40
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available