K47E (p.Lys47Glu) variant of CACNA1D (Q01668)
K47E (p.Lys47Glu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD rs1221572466
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.76
- MetaSVM 0.21
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available