S46L (p.Ser46Leu) variant of CDH2 (Cadherin-2)
S46L (p.Ser46Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
S46L (p.Ser46Leu) variant details
- p.Ser46Leu
- rs780887307
- ClinGen CA8923826
- ClinVar RCV002676244
- ExAC rs780887307
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.04
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available