K8E (p.Lys8Glu) variant of CACNA1D (Q01668)
K8E (p.Lys8Glu) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- rs1362047729
- ClinGen CA353381465
- cosmic curated COSV55457
- ClinVar RCV003231938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- MetaLR 0.63
- MetaSVM -0.04
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available