R9G (p.Arg9Gly) variant of CDH2 (Cadherin-2)
R9G (p.Arg9Gly) 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 0.39 / 1. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs1403830213
- ClinGen CA402245116
- ClinVar RCV002745226
- 1000Genomes rs1403830213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available