I30I (p.Ile30Ile) variant of BAG3 (O95817)
I30I (p.Ile30Ile) in BAG3 (O95817) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I30I (p.Ile30Ile) variant details
- p.Ile30Ile
- rs1435069147
- gnomAD 10-119651765-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.466
- Literature evidence available