L8P (p.Leu8Pro) variant of CACNA1B (Q00975)
L8P (p.Leu8Pro) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 9-137877956-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.40
- MetaLR 0.85
- MetaSVM 0.04
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available