A7V (p.Ala7Val) variant of CDH2 (Cadherin-2)
A7V (p.Ala7Val) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- TOPMed rs1598530655
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.24
- MetaLR 0.10
- MetaSVM -0.96
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available