S14C (p.Ser14Cys) variant of CACNA1E (Q15878)
S14C (p.Ser14Cys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD rs1422179994
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.42
- CADD 25.20
- PolyPhen-2 0.75
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available