D5Y (p.Asp5Tyr) variant of CACNB2 (Q08289)
D5Y (p.Asp5Tyr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- gnomAD 10-18140749-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.45
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available