T5M (p.Thr5Met) variant of GJB2 (Gap junction beta-2 protein)
T5M (p.Thr5Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- rs781085903
- ClinGen CA6904334
- cosmic curated COSV10749
- ClinVar RCV000711345
- Uncertain significance
- Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.47
- MetaLR 0.94
- MetaSVM 0.83
- CADD 18.40
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Uncertain significance (Mutilating keratoderma; Palmoplantar keratoderma-deafness syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)