G13E (p.Gly13Glu) variant of CACNA1B (Q00975)
G13E (p.Gly13Glu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD 9-137877971-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.67
- MetaLR 0.94
- MetaSVM 1.03
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available