I28V (p.Ile28Val) variant of BAG3 (O95817)
I28V (p.Ile28Val) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- gnomAD 10-119651757-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.34
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.586
- Literature evidence available