G30E (p.Gly30Glu) variant of CACNA1B (Q00975)
G30E (p.Gly30Glu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- gnomAD 9-137878022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.41
- MetaLR 0.84
- MetaSVM 0.54
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available