Y39N (p.Tyr39Asn) variant of CACNA1E (Q15878)
Y39N (p.Tyr39Asn) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y39N (p.Tyr39Asn) variant details
- p.Tyr39Asn
- ExAC rs762088533
- gnomAD rs762088533
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.80
- CADD 24.30
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available