G24A (p.Gly24Ala) variant of CACNA1B (Q00975)
G24A (p.Gly24Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- gnomAD 9-137878004-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.36
- MetaLR 0.66
- MetaSVM -0.11
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available