A17V (p.Ala17Val) variant of CDH2 (Cadherin-2)
A17V (p.Ala17Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs1219438806
- ClinGen CA402245052
- ClinVar RCV003857978
- TOPMed rs1219438806
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -1.07
- CADD 24.10
- PolyPhen-2 0.48
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.7e-05)
- Structural context available