G24S (p.Gly24Ser) variant of CACNA1B (Q00975)
G24S (p.Gly24Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- gnomAD 9-137878003-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.33
- MetaLR 0.72
- MetaSVM 0.01
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available