Q19H (p.Gln19His) variant of CACNB2 (Q08289)
Q19H (p.Gln19His) in CACNB2 (Q08289) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- NCI-TCGA TCGA novel
- ExAC rs759289370
- gnomAD rs759289370
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available