T128I (p.Thr128Ile) variant of CDH2 (Cadherin-2)
T128I (p.Thr128Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T128I (p.Thr128Ile) variant details
- p.Thr128Ile
- ESP rs199902980
- ExAC rs199902980
- TOPMed rs199902980
- gnomAD rs199902980
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.03
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available