A101D (p.Ala101Asp) variant of CACNA1S (Q13698)
A101D (p.Ala101Asp) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A101D (p.Ala101Asp) variant details
- p.Ala101Asp
- gnomAD rs1224046860
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available