A16V (p.Ala16Val) variant of CDH2 (Cadherin-2)
A16V (p.Ala16Val) in CDH2 (Cadherin-2) is a missense change. 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.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- TOPMed rs1490213867
- gnomAD rs1490213867
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -1.08
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.60
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available