L103V (p.Leu103Val) variant of CDH2 (Cadherin-2)
L103V (p.Leu103Val) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- TOPMed rs1274222569
- gnomAD rs1274222569
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.07
- CADD 15.80
- SIFT 0.59
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available