S14I (p.Ser14Ile) variant of CACNA1E (Q15878)
S14I (p.Ser14Ile) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD 1-181413172-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available