R3L (p.Arg3Leu) variant of CACNA1B (Q00975)
R3L (p.Arg3Leu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- gnomAD rs1427217191
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.84
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00012)
- Structural context available