S41C (p.Ser41Cys) variant of CACNA1D (Q01668)
S41C (p.Ser41Cys) 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, published literature, and structural context.
S41C (p.Ser41Cys) variant details
- p.Ser41Cys
- gnomAD 3-53497206-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- MetaLR 0.75
- MetaSVM 0.30
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available