C1837G (p.Cys1837Gly) variant of TECTA (Alpha-tectorin)
C1837G (p.Cys1837Gly) 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 0.84 / 1. The record also includes published literature and structural context.
C1837G (p.Cys1837Gly) variant details
- p.Cys1837Gly
- rs121909061
- ClinGen CA254069
- ClinVar RCV000007435
- UniProt VAR 018975
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 12)
- EBI: Pathogenic (in DFNA12)
- UniProt: Pathogenic (in DFNA12)
- Structural context available
- Cited in: A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual… (PMID 11333869)
- Cited in: DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. (PMID 21520338)