A25T (p.Ala25Thr) variant of CDH2 (Cadherin-2)
A25T (p.Ala25Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs2510778357
- ClinGen CA402244742
- ClinVar RCV003709140
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- MetaLR 0.18
- MetaSVM -0.82
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available