R22L (p.Arg22Leu) variant of CACNA1B (Q00975)
R22L (p.Arg22Leu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- gnomAD 9-137877998-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.41
- MetaLR 0.65
- MetaSVM 0.09
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available