T128A (p.Thr128Ala) variant of CDH2 (Cadherin-2)
T128A (p.Thr128Ala) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
T128A (p.Thr128Ala) variant details
- p.Thr128Ala
- ExAC rs751016097
- TOPMed rs751016097
- gnomAD rs751016097
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.02
- CADD 5.22
- PolyPhen-2 0.01
- SIFT 0.78
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available