G27S (p.Gly27Ser) variant of CDH2 (Cadherin-2)
G27S (p.Gly27Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- gnomAD rs1462592216
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available