R2021H (p.Arg2021His) variant of TECTA (Alpha-tectorin)
R2021H (p.Arg2021His) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R2021H (p.Arg2021His) variant details
- p.Arg2021His
- rs121909062
- ClinGen CA254070
- NCI-TCGA Cosmic COSV5071
- cosmic curated COSV50718
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal dominant nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.90
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. (PMID 12162770)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)