D20Y (p.Asp20Tyr) variant of BAG3 (O95817)
D20Y (p.Asp20Tyr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- gnomAD 10-119651733-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.44
- CADD 29.30
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.282
- Literature evidence available