N83K (p.Asn83Lys) variant of CACNA1S (Q13698)
N83K (p.Asn83Lys) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
N83K (p.Asn83Lys) variant details
- p.Asn83Lys
- gnomAD rs1211791767
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.77
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available