Q35H (p.Gln35His) variant of CACNA1E (Q15878)
Q35H (p.Gln35His) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- ExAC rs768935172
- gnomAD rs768935172
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.29
- CADD 5.42
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available