D6A (p.Asp6Ala) variant of CACNA1B (Q00975)
D6A (p.Asp6Ala) in CACNA1B (Q00975) 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, published literature, and structural context.
D6A (p.Asp6Ala) variant details
- p.Asp6Ala
- gnomAD 9-137877950-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.62
- MetaLR 0.87
- MetaSVM 0.79
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available