N28K (p.Asn28Lys) variant of CACNB2 (Q08289)
N28K (p.Asn28Lys) in CACNB2 (Q08289) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N28K (p.Asn28Lys) variant details
- p.Asn28Lys
- ExAC rs763573123
- TOPMed rs763573123
- gnomAD rs763573123
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available