V30L (p.Val30Leu) variant of CACNA1E (Q15878)
V30L (p.Val30Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- rs1013161252
- ClinGen CA343844318
- ClinVar RCV002305114
- TOPMed rs1013161252
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.40
- CADD 21.30
- PolyPhen-2 0.05
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available