L121F (p.Leu121Phe) variant of CDH2 (Cadherin-2)
L121F (p.Leu121Phe) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
L121F (p.Leu121Phe) variant details
- p.Leu121Phe
- ExAC rs374765506
- gnomAD rs374765506
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.80
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available