T26I (p.Thr26Ile) variant of GJB2 (Gap junction beta-2 protein)
T26I (p.Thr26Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- cosmic curated COSV10124
- TOPMed rs1293599962
- gnomAD rs1293599962
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.71
- MetaLR 0.95
- MetaSVM 1.13
- CADD 26.20
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available