C1837Y (p.Cys1837Tyr) variant of TECTA (Alpha-tectorin)
C1837Y (p.Cys1837Tyr) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C1837Y (p.Cys1837Tyr) variant details
- p.Cys1837Tyr
- rs1947056659
- ClinGen CA383034573
- ClinVar RCV001327987
- Ensembl rs1947056659
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.92
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Likely pathogenic (in DFNA12)
- UniProt: Likely pathogenic (in DFNA12)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)