G24D (p.Gly24Asp) variant of CACNA1B (Q00975)
G24D (p.Gly24Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 9-137878004-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.50
- MetaLR 0.70
- MetaSVM 0.20
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available