S52F (p.Ser52Phe) variant of CACNA1D (Q01668)
S52F (p.Ser52Phe) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- gnomAD 3-53497239-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.68
- MetaLR 0.88
- MetaSVM 0.95
- CADD 26.10
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available