R2021C (p.Arg2021Cys) variant of TECTA (Alpha-tectorin)
R2021C (p.Arg2021Cys) 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 not provided; Autosomal dominant nonsyndromic hearing loss 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R2021C (p.Arg2021Cys) variant details
- p.Arg2021Cys
- rs1455568421
- ClinGen CA383009656
- NCI-TCGA Cosmic COSV5069
- cosmic curated COSV50697
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)