I30F (p.Ile30Phe) variant of GJB2 (Gap junction beta-2 protein)
I30F (p.Ile30Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
I30F (p.Ile30Phe) variant details
- p.Ile30Phe
- rs374625633
- ClinGen CA387462020
- ClinVar RCV002812017
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 0.04
- SIFT 0.25
- EVE 0.19
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available