T190P (p.Thr190Pro) variant of TECTA (Alpha-tectorin)
T190P (p.Thr190Pro) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
T190P (p.Thr190Pro) variant details
- p.Thr190Pro
- rs763872132
- ClinGen CA383021963
- ClinVar RCV004018045
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.54
- MetaLR 0.51
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.26
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)