L25F (p.Leu25Phe) variant of GJB2 (Gap junction beta-2 protein)
L25F (p.Leu25Phe) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs1555342006
- ClinGen CA387462069
- ClinVar RCV000522480
- Ensembl rs1555342006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.79
- SIFT 0.01
- EVE 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available