I23M (p.Ile23Met) variant of GJB2 (Gap junction beta-2 protein)
I23M (p.Ile23Met) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I23M (p.Ile23Met) variant details
- p.Ile23Met
- Ensembl rs1566529011
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.07
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available