K133R (p.Lys133Arg) variant of CDH2 (Cadherin-2)
K133R (p.Lys133Arg) in CDH2 (Cadherin-2) is a missense change. 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.
K133R (p.Lys133Arg) variant details
- p.Lys133Arg
- TOPMed rs980711081
- gnomAD rs980711081
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.95
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available