C1619S (p.Cys1619Ser) variant of TECTA (Alpha-tectorin)
C1619S (p.Cys1619Ser) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
C1619S (p.Cys1619Ser) variant details
- p.Cys1619Ser
- rs121909060
- ClinGen CA254068
- ClinVar RCV000007432
- UniProt VAR 018971
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.39
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Structural context available
- Cited in: Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss. (PMID 10196713)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)