G31C (p.Gly31Cys) variant of CACNA1B (Q00975)
G31C (p.Gly31Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G31C (p.Gly31Cys) variant details
- p.Gly31Cys
- gnomAD 9-137878024-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- MetaLR 0.78
- MetaSVM 0.48
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available