R3H (p.Arg3His) variant of CACNA1B (Q00975)
R3H (p.Arg3His) 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, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- gnomAD 9-137877941-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.83
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available