K66E (p.Lys66Glu) variant of CDH2 (Cadherin-2)
K66E (p.Lys66Glu) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K66E (p.Lys66Glu) variant details
- p.Lys66Glu
- ExAC rs201274796
- gnomAD rs201274796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.05
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available