E7G (p.Glu7Gly) variant of CACNA1B (Q00975)
E7G (p.Glu7Gly) 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.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD 9-137877953-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.40
- MetaLR 0.80
- MetaSVM 0.46
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available