G29S (p.Gly29Ser) variant of CACNA1D (Q01668)
G29S (p.Gly29Ser) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- Ensembl rs2107068908
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.26
- MetaLR 0.71
- MetaSVM -0.29
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available