K45N (p.Lys45Asn) variant of SCN10A (Q9Y5Y9)
K45N (p.Lys45Asn) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
K45N (p.Lys45Asn) variant details
- p.Lys45Asn
- cosmic curated COSV71860
- Ensembl rs1575184008
- Likely benign
- Missense
- MetaLR 0.75
- MetaSVM -0.01
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available