G30A (p.Gly30Ala) variant of CACNA1B (Q00975)
G30A (p.Gly30Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- Ensembl rs1429565458
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.38
- MetaLR 0.81
- MetaSVM 0.29
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available