L84V (p.Leu84Val) variant of CACNA1S (Q13698)
L84V (p.Leu84Val) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L84V (p.Leu84Val) variant details
- p.Leu84Val
- TOPMed rs1663043307
- gnomAD rs1663043307
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- CADD 8.83
- PolyPhen-2 0.05
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available