G14C (p.Gly14Cys) variant of CACNA1B (Q00975)
G14C (p.Gly14Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- Ensembl rs1956856362
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.67
- MetaLR 0.91
- MetaSVM 0.99
- CADD 24.10
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available