Q17E (p.Gln17Glu) variant of CACNA1D (Q01668)
Q17E (p.Gln17Glu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q17E (p.Gln17Glu) variant details
- p.Gln17Glu
- gnomAD 3-53495215-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.18
- MetaLR 0.61
- MetaSVM -0.19
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available