R11H (p.Arg11His) variant of CACNA1B (Q00975)
R11H (p.Arg11His) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- gnomAD rs1956856128
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.62
- MetaLR 0.92
- MetaSVM 0.99
- CADD 26.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available