K8I (p.Lys8Ile) variant of CACNA1D (Q01668)
K8I (p.Lys8Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K8I (p.Lys8Ile) variant details
- p.Lys8Ile
- gnomAD rs949515812
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- MetaLR 0.70
- MetaSVM 0.40
- CADD 25.60
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available