V40M (p.Val40Met) variant of BAG3 (O95817)
V40M (p.Val40Met) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- gnomAD 10-119651793-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.77
- CADD 29.70
- PolyPhen-2 1.00
- 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 0.235
- Literature evidence available