L19F (p.Leu19Phe) variant of CDH2 (Cadherin-2)
L19F (p.Leu19Phe) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD rs1214159271
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.07
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)
- Structural context available