T1866M (p.Thr1866Met) variant of TECTA (Alpha-tectorin)
T1866M (p.Thr1866Met) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic hearing loss; Inborn genetic diseases; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T1866M (p.Thr1866Met) variant details
- p.Thr1866Met
- rs140236996
- ClinGen CA6327783
- cosmic curated COSV50820
- ClinVar RCV000225064
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; Inborn genetic diseases; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; Inborn genetic diseases; Rare genetic de)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. (PMID 20947814)
- Cited in: DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. (PMID 21520338)