F4L (p.Phe4Leu) variant of CACNA1E (Q15878)
F4L (p.Phe4Leu) in CACNA1E (Q15878) 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 0.56 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs1228809248
- ClinGen CA343844156
- ClinVar RCV003015632
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.53
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.04
- 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