V69I (p.Val69Ile) variant of CDH2 (Cadherin-2)
V69I (p.Val69Ile) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V69I (p.Val69Ile) variant details
- p.Val69Ile
- cosmic curated COSV52275
- ExAC rs755723588
- TOPMed rs755723588
- gnomAD rs755723588
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available