S14G (p.Ser14Gly) variant of CACNA1E (Q15878)
S14G (p.Ser14Gly) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- gnomAD 1-181413171-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available