D41H (p.Asp41His) variant of BAG3 (O95817)
D41H (p.Asp41His) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- gnomAD 10-119651796-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.45
- Literature evidence available