H42N (p.His42Asn) variant of BAG3 (O95817)
H42N (p.His42Asn) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H42N (p.His42Asn) variant details
- p.His42Asn
- gnomAD 10-119651799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.81
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.762
- Literature evidence available