S45G (p.Ser45Gly) variant of CACNA1D (Q01668)
S45G (p.Ser45Gly) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S45G (p.Ser45Gly) variant details
- p.Ser45Gly
- Ensembl rs539335706
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.29
- MetaLR 0.72
- MetaSVM 0.26
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available