V592M (p.Val592Met) variant of TECTA (Alpha-tectorin)
V592M (p.Val592Met) 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 Hearing loss, autosomal recessive; Deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V592M (p.Val592Met) variant details
- p.Val592Met
- rs1565522273
- ClinGen CA383012793
- ClinVar RCV000679840
- ClinVar RCV001291354
- Pathogenic/Likely pathogenic
- Hearing loss, autosomal recessive; Deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.06
- PolyPhen-2 0.87
- SIFT 0.08
- MutPred 0.52
- ClinVar: Pathogenic/Likely pathogenic (Hearing loss, autosomal recessive; Deafness)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)