T237I (p.Thr237Ile) variant of TECTA (Alpha-tectorin)
T237I (p.Thr237Ile) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ear malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
T237I (p.Thr237Ile) variant details
- p.Thr237Ile
- rs2135060276
- ClinGen CA383023325
- ClinVar RCV001814387
- Ensembl rs2135060276
- Likely pathogenic
- Ear malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.91
- MetaLR 0.60
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Likely pathogenic (Ear malformation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available