G28E (p.Gly28Glu) variant of CACNA1B (Q00975)
G28E (p.Gly28Glu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- gnomAD 9-137878016-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.38
- MetaLR 0.72
- MetaSVM -0.06
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available