Q16H (p.Gln16His) variant of CACNA1D (Q01668)
Q16H (p.Gln16His) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- gnomAD 3-53495214-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.24
- MetaLR 0.65
- MetaSVM -0.24
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available