R9Q (p.Arg9Gln) variant of CDH2 (Cadherin-2)
R9Q (p.Arg9Gln) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- 1000Genomes rs2144382434
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.19
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.68
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available