S5P (p.Ser5Pro) variant of CACNA1S (Q13698)
S5P (p.Ser5Pro) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- 1000Genomes rs201601955
- ExAC rs201601955
- gnomAD rs201601955
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available