L8M (p.Leu8Met) variant of CACNA1B (Q00975)
L8M (p.Leu8Met) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- gnomAD 9-137877955-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.36
- MetaLR 0.79
- MetaSVM 0.11
- CADD 17.30
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available