D6G (p.Asp6Gly) variant of CACNA1B (Q00975)
D6G (p.Asp6Gly) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- gnomAD 9-137877950-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.66
- MetaLR 0.89
- MetaSVM 0.85
- CADD 24.90
- PolyPhen-2 0.63
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available