F4L (p.Phe4Leu) variant of CACNA1B (Q00975)
F4L (p.Phe4Leu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- gnomAD 9-137877943-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.67
- MetaLR 0.93
- MetaSVM 0.84
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available