K8Q (p.Lys8Gln) variant of CACNA1D (Q01668)
K8Q (p.Lys8Gln) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K8Q (p.Lys8Gln) variant details
- p.Lys8Gln
- gnomAD 3-53495188-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.25
- MetaLR 0.70
- MetaSVM 0.18
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available