A30T (p.Ala30Thr) variant of CDH2 (Cadherin-2)
A30T (p.Ala30Thr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs200711868
- ClinGen CA8923837
- ClinVar RCV002122537
- ExAC rs200711868
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.00
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available