C1837R (p.Cys1837Arg) variant of TECTA (Alpha-tectorin)
C1837R (p.Cys1837Arg) 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 0.84 / 1. The record also includes published literature and structural context.
C1837R (p.Cys1837Arg) variant details
- p.Cys1837Arg
- rs121909061
- ClinGen CA254072
- ClinVar RCV000007438
- UniProt VAR 066091
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Structural context available
- Cited in: Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. (PMID 17661817)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)