D8V (p.Asp8Val) variant of CACNA1S (Q13698)
D8V (p.Asp8Val) in CACNA1S (Q13698) 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.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- gnomAD rs921008103
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.44
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available