S45T (p.Ser45Thr) variant of CACNA1D (Q01668)
S45T (p.Ser45Thr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- ExAC rs781312928
- gnomAD rs781312928
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.53
- CADD 19.90
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available