N44K (p.Asn44Lys) variant of CACNA1D (Q01668)
N44K (p.Asn44Lys) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- ESP rs377363390
- ExAC rs377363390
- TOPMed rs377363390
- gnomAD rs377363390
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available