G14S (p.Gly14Ser) variant of CACNA1B (Q00975)
G14S (p.Gly14Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- gnomAD 9-137877973-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- MetaLR 0.77
- MetaSVM 0.50
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available