I28L (p.Ile28Leu) variant of BAG3 (O95817)
I28L (p.Ile28Leu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I28L (p.Ile28Leu) variant details
- p.Ile28Leu
- gnomAD 10-119651757-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.34
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.586
- Literature evidence available