E130K (p.Glu130Lys) variant of CDH2 (Cadherin-2)
E130K (p.Glu130Lys) 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.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- TOPMed rs2013160687
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -1.08
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available