Q48H (p.Gln48His) variant of CACNA1D (Q01668)
Q48H (p.Gln48His) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- TOPMed rs2090389761
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- MetaLR 0.74
- MetaSVM 0.33
- CADD 20.30
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available