R19H (p.Arg19His) variant of BAG3 (O95817)
R19H (p.Arg19His) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- gnomAD 10-119651731-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.25
- CADD 25.00
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.871
- Literature evidence available