R11L (p.Arg11Leu) variant of CACNA1B (Q00975)
R11L (p.Arg11Leu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 9-137877965-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- MetaLR 0.85
- MetaSVM 0.71
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available