Q11H (p.Gln11His) variant of CACNA1D (Q01668)
Q11H (p.Gln11His) in CACNA1D (Q01668) 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 0.39 / 1. The record also includes population frequency data and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.24
- MetaLR 0.68
- MetaSVM -0.17
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available