I104T (p.Ile104Thr) variant of CDH2 (Cadherin-2)
I104T (p.Ile104Thr) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I104T (p.Ile104Thr) variant details
- p.Ile104Thr
- gnomAD rs1177369468
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.34
- MetaLR 0.15
- MetaSVM -0.83
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available