Q20R (p.Gln20Arg) variant of CDH2 (Cadherin-2)
Q20R (p.Gln20Arg) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- Ensembl rs2144382248
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.27
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available