Y39C (p.Tyr39Cys) variant of CACNA1E (Q15878)
Y39C (p.Tyr39Cys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- Ensembl rs1663532372
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.75
- CADD 25.90
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available