D18E (p.Asp18Glu) variant of BAG3 (O95817)
D18E (p.Asp18Glu) in BAG3 (O95817) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- Ensembl rs866659159
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.19