R22Q (p.Arg22Gln) variant of CACNA1B (Q00975)
R22Q (p.Arg22Gln) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- gnomAD 9-137877998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.36
- MetaLR 0.60
- MetaSVM -0.20
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available