R1890C (p.Arg1890Cys) variant of TECTA (Alpha-tectorin)
R1890C (p.Arg1890Cys) 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 Nonsyndromic genetic hearing loss; not provided; Autosomal dominant nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R1890C (p.Arg1890Cys) variant details
- p.Arg1890Cys
- rs121909063
- ClinGen CA254071
- NCI-TCGA Cosmic COSV5070
- cosmic curated COSV50700
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal dominant nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.71
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal domin)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. (PMID 16718611)
- Cited in: DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. (PMID 21520338)