T83M (p.Thr83Met) variant of TECTA (Alpha-tectorin)
T83M (p.Thr83Met) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 21; Autosomal dominant nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T83M (p.Thr83Met) variant details
- p.Thr83Met
- rs145898158
- ClinGen CA6326458
- cosmic curated COSV50797
- ClinVar RCV001004808
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 21; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.20
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 21; Autosomal domi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)