I30L (p.Ile30Leu) variant of GJB1 (Gap junction beta-1 protein)
I30L (p.Ile30Leu) in GJB1 (Gap junction beta-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I30L (p.Ile30Leu) variant details
- p.Ile30Leu
- gnomAD X-71223795-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.82
- CADD 23.80
- PolyPhen-2 0.75
- SIFT 0.12
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available