P13L (p.Pro13Leu) variant of CDH2 (Cadherin-2)
P13L (p.Pro13Leu) in CDH2 (Cadherin-2) is a missense change. 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.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- TOPMed rs1363152842
- gnomAD rs1363152842
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- MetaLR 0.11
- MetaSVM -1.06
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.78
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available