N64D (p.Asn64Asp) variant of CACNA1S (Q13698)
N64D (p.Asn64Asp) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N64D (p.Asn64Asp) variant details
- p.Asn64Asp
- Ensembl rs1663047287
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.83
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available