C1057S (p.Cys1057Ser) variant of TECTA (Alpha-tectorin)
C1057S (p.Cys1057Ser) 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 Autosomal dominant nonsyndromic hearing loss 12; not provided. 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.
C1057S (p.Cys1057Ser) variant details
- p.Cys1057Ser
- rs121909059
- ClinGen CA254067
- ClinVar RCV000007431
- ClinVar RCV005089201
- Pathogenic/Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.62
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 12; not provided)
- 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: Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes. (PMID 10987647)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)