Y1870C (p.Tyr1870Cys) variant of TECTA (Alpha-tectorin)
Y1870C (p.Tyr1870Cys) 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 0.78 / 1. The record also includes published literature and structural context.
Y1870C (p.Tyr1870Cys) variant details
- p.Tyr1870Cys
- rs121909058
- ClinGen CA254066
- ClinVar RCV000007429
- UniProt VAR 018976
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Structural context available
- Cited in: Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. (PMID 9590290)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)