T128S (p.Thr128Ser) variant of CDH2 (Cadherin-2)
T128S (p.Thr128Ser) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T128S (p.Thr128Ser) variant details
- p.Thr128Ser
- ExAC rs751016097
- TOPMed rs751016097
- gnomAD rs751016097
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.02
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available