G65E (p.Gly65Glu) variant of CDH2 (Cadherin-2)
G65E (p.Gly65Glu) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
G65E (p.Gly65Glu) variant details
- p.Gly65Glu
- rs1357817564
- ClinGen CA402244791
- NCI-TCGA Cosmic COSV5228
- cosmic curated COSV52280
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.03
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available