G27D (p.Gly27Asp) variant of CACNA1B (Q00975)
G27D (p.Gly27Asp) 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 and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- TOPMed rs1307809592
- gnomAD rs1307809592
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.33
- MetaLR 0.74
- MetaSVM -0.33
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available