Q11R (p.Gln11Arg) variant of BAG3 (O95817)
Q11R (p.Gln11Arg) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- gnomAD 10-119651707-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.08
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.152
- Literature evidence available