N11K (p.Asn11Lys) variant of SCN10A (Q9Y5Y9)
N11K (p.Asn11Lys) in SCN10A (Q9Y5Y9) 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 0.30 / 1. The record also includes population frequency data and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- 1000Genomes rs201415200
- TOPMed rs201415200
- gnomAD rs201415200
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- MetaLR 0.64
- MetaSVM -0.03
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available