L52S (p.Leu52Ser) variant of CACNA1E (Q15878)
L52S (p.Leu52Ser) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- cosmic curated COSV10442
- TOPMed rs972657966
- gnomAD rs972657966
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available