L14P (p.Leu14Pro) variant of CDH2 (Cadherin-2)
L14P (p.Leu14Pro) 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 0.41 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs1434663670
- ClinGen CA402245084
- ClinVar RCV003704784
- gnomAD rs1434663670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.30
- MetaLR 0.15
- MetaSVM -0.84
- CADD 29.40
- PolyPhen-2 0.77
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available